Variant report

Variant	rs73909906
Chromosome Location	chr21:46392654-46392655
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:46392511-46392826	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr21:46392365-46393295	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr21:46392381-46393111	K562	blood:	n/a	n/a
4	TCF12	chr21:46392570-46393313	ECC-1	luminal epithelium:	n/a	n/a
5	TCF12	chr21:46392328-46393328	ECC-1	luminal epithelium:	n/a	n/a
6	CTCF	chr21:46392201-46392732	K562	blood:	n/a	n/a
7	MAX	chr21:46392582-46393239	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr21:46392495-46392930	HepG2	liver:	n/a	n/a
9	POLR2A	chr21:46392326-46393213	K562	blood:	n/a	n/a
10	POLR2A	chr21:46392361-46392664	H1-hESC	embryonic stem cell:	n/a	n/a
11	NR3C1	chr21:46392251-46393237	A549	lung:	n/a	chr21:46392626-46392635 chr21:46392625-46392634
12	NR3C1	chr21:46392456-46393115	A549	lung:	n/a	chr21:46392626-46392635 chr21:46392625-46392634
13	NR3C1	chr21:46392403-46393198	A549	lung:	n/a	chr21:46392626-46392635 chr21:46392625-46392634
14	GABPA	chr21:46392300-46392689	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr21:46392561-46392812	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:46387463..46395588-chr21:46492597..46498092,12	K562	blood:
2	chr21:46380415..46381979-chr21:46391161..46392964,2	K562	blood:
3	chr21:46369739..46370323-chr21:46392021..46392844,2	MCF-7	breast:
4	chr21:46391141..46392812-chr21:46492465..46494168,2	MCF-7	breast:
5	chr21:46382465..46395146-chr21:46491921..46496809,22	K562	blood:

Variant related genes	Relation type
FAM207A	TF binding region
ENSG00000268856	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs2838748	1.00[EUR][1000 genomes]
rs55633511	1.00[EUR][1000 genomes]
rs55705724	1.00[EUR][1000 genomes]
rs55775492	1.00[EUR][1000 genomes]
rs55989453	1.00[EUR][1000 genomes]
rs56283815	1.00[EUR][1000 genomes]
rs56297608	1.00[EUR][1000 genomes]
rs57677709	1.00[EUR][1000 genomes]
rs58009782	0.90[AMR][1000 genomes]
rs58184639	1.00[EUR][1000 genomes]
rs58206199	0.90[AMR][1000 genomes]
rs58929845	1.00[EUR][1000 genomes]
rs58951027	1.00[EUR][1000 genomes]
rs58977945	1.00[EUR][1000 genomes]
rs59163354	1.00[EUR][1000 genomes]
rs59226008	1.00[EUR][1000 genomes]
rs59267673	1.00[EUR][1000 genomes]
rs59281465	1.00[EUR][1000 genomes]
rs59318141	1.00[EUR][1000 genomes]
rs59444929	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59573927	1.00[EUR][1000 genomes]
rs59730475	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60088468	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60725487	1.00[EUR][1000 genomes]
rs7276874	1.00[EUR][1000 genomes]
rs7277529	1.00[EUR][1000 genomes]
rs7278296	1.00[EUR][1000 genomes]
rs7278617	1.00[EUR][1000 genomes]
rs7283338	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7283630	1.00[EUR][1000 genomes]
rs73376557	1.00[EUR][1000 genomes]
rs73906965	1.00[EUR][1000 genomes]
rs73906966	1.00[EUR][1000 genomes]
rs73906968	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73906970	1.00[EUR][1000 genomes]
rs73906971	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73906974	1.00[EUR][1000 genomes]
rs73906981	1.00[EUR][1000 genomes]
rs73906983	1.00[EUR][1000 genomes]
rs73906984	1.00[EUR][1000 genomes]
rs73906985	1.00[EUR][1000 genomes]
rs73907002	1.00[EUR][1000 genomes]
rs73909903	1.00[EUR][1000 genomes]
rs73909905	1.00[EUR][1000 genomes]
rs73909911	1.00[EUR][1000 genomes]
rs8127517	1.00[EUR][1000 genomes]
rs8129398	1.00[EUR][1000 genomes]
rs8130143	1.00[EUR][1000 genomes]
rs8130435	1.00[EUR][1000 genomes]
rs8134047	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv913974	chr21:46306161-46430792	Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv913975	chr21:46306161-46459432	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
9	nsv1064518	chr21:46317690-46413159	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	nsv913977	chr21:46335761-46454391	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv913978	chr21:46335761-46466674	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv913979	chr21:46335761-46472929	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv913980	chr21:46337565-46454391	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv913981	chr21:46344426-46408790	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv913982	chr21:46344426-46430792	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv913984	chr21:46344426-46435610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv913983	chr21:46344426-46440385	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	nsv913985	chr21:46344426-46448142	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	nsv913986	chr21:46344426-46466674	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv913987	chr21:46344426-46472929	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
21	nsv913988	chr21:46356816-46408790	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
22	nsv913989	chr21:46356816-46430792	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
23	nsv913990	chr21:46356816-46448142	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	nsv913991	chr21:46356816-46472929	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
25	nsv544480	chr21:46364856-46413159	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
26	nsv913992	chr21:46366547-46408790	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
27	nsv913993	chr21:46376528-46448142	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
28	nsv913994	chr21:46376528-46454391	Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
29	nsv913995	chr21:46376528-46466674	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
30	nsv913996	chr21:46383941-46459432	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
31	nsv913997	chr21:46383941-46472929	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
32	esv3410283	chr21:46392349-46394897	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
33	esv3498135	chr21:46392474-46394572	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
34	esv3498136	chr21:46392474-46394572	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46380000-46396600	Weak transcription	Brain Substantia Nigra	brain
2	chr21:46380200-46402600	Weak transcription	Aorta	Aorta
3	chr21:46381200-46396400	Weak transcription	Psoas Muscle	Psoas
4	chr21:46382800-46404800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:46384200-46399600	Strong transcription	Fetal Intestine Small	intestine
6	chr21:46385000-46393200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr21:46385000-46401400	Strong transcription	Thymus	Thymus
8	chr21:46385200-46393000	Genic enhancers	Fetal Muscle Leg	muscle
9	chr21:46385400-46393000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr21:46385400-46393800	Genic enhancers	Fetal Muscle Trunk	muscle
11	chr21:46385800-46393000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr21:46386200-46393200	Genic enhancers	Spleen	Spleen
13	chr21:46386400-46400600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr21:46386800-46400600	Weak transcription	Small Intestine	intestine
15	chr21:46387600-46396000	Strong transcription	Pancreas	Pancrea
16	chr21:46387800-46397800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr21:46387800-46399000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr21:46388400-46393600	Weak transcription	Fetal Brain Female	brain
19	chr21:46388600-46394600	Weak transcription	Liver	Liver
20	chr21:46388600-46396800	Weak transcription	Brain Hippocampus Middle	brain
21	chr21:46388600-46397600	Weak transcription	NHEK	skin
22	chr21:46388600-46398200	Strong transcription	Gastric	stomach
23	chr21:46388600-46398400	Weak transcription	Brain Angular Gyrus	brain
24	chr21:46388600-46399800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr21:46389400-46393000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
26	chr21:46389400-46393000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr21:46390000-46393800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr21:46390000-46398600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr21:46390000-46399400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr21:46390200-46393200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr21:46390200-46394600	Weak transcription	Colon Smooth Muscle	Colon
32	chr21:46390200-46395000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr21:46390200-46395000	Weak transcription	Colonic Mucosa	Colon
34	chr21:46390200-46399000	Weak transcription	GM12878-XiMat	blood
35	chr21:46390200-46399400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr21:46390200-46400400	Weak transcription	Right Atrium	heart
37	chr21:46390200-46403200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr21:46390200-46406400	Weak transcription	Brain Anterior Caudate	brain
39	chr21:46390400-46393400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr21:46390400-46393400	Weak transcription	Fetal Intestine Large	intestine
41	chr21:46390400-46393600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr21:46390400-46394000	Weak transcription	HSMMtube	muscle
43	chr21:46390400-46394600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr21:46390400-46396000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr21:46390400-46400600	Weak transcription	Fetal Lung	lung
46	chr21:46390400-46402600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr21:46390400-46402600	Weak transcription	HUVEC	blood vessel
48	chr21:46390400-46402800	Weak transcription	Osteobl	bone
49	chr21:46390400-46408600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr21:46390600-46392800	Weak transcription	Adipose Nuclei	Adipose

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