Variant report

Variant	rs2005951
Chromosome Location	chr21:46383063-46383064
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46382465..46395146-chr21:46491921..46496809,22	K562	blood:
2	chr21:46380660..46386413-chr21:46492365..46496597,10	K562	blood:
3	chr21:46380133..46384082-chr21:46489479..46495826,5	MCF-7	breast:
4	chr21:46357525..46361892-chr21:46382885..46387113,6	K562	blood:

Variant related genes	Relation type
ENSG00000268856	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11701378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11701457	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11702593	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2294166	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2294168	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2294170	0.83[ASN][1000 genomes]
rs2838742	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838743	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838745	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28399723	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28461900	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4143368	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4818743	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4818748	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4818749	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4818990	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4818993	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55716911	0.85[ASN][1000 genomes]
rs55859454	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56213773	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62214491	0.80[ASN][1000 genomes]
rs62214513	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46361000-46384200	Weak transcription	Fetal Kidney	kidney
2	chr21:46361400-46384600	Weak transcription	Small Intestine	intestine
3	chr21:46361600-46389200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr21:46362400-46383200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr21:46364200-46391400	Strong transcription	Dnd41	blood
6	chr21:46370000-46384200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr21:46370000-46385000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr21:46370200-46383400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr21:46370200-46383600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr21:46370600-46384800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr21:46371000-46383200	Strong transcription	Primary T cells from cord blood	blood
12	chr21:46371200-46384400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr21:46373000-46385400	Weak transcription	Fetal Brain Male	brain
14	chr21:46373800-46385600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr21:46373800-46387600	Strong transcription	HepG2	liver
16	chr21:46375200-46385600	Strong transcription	K562	blood
17	chr21:46376200-46383600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr21:46377600-46386200	Strong transcription	Hela-S3	cervix
19	chr21:46379400-46385000	Genic enhancers	HSMM	muscle
20	chr21:46379400-46385600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr21:46379600-46388400	Weak transcription	Stomach Mucosa	stomach
22	chr21:46379800-46383600	Strong transcription	Fetal Thymus	thymus
23	chr21:46379800-46385400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr21:46380000-46384000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr21:46380000-46384800	Strong transcription	GM12878-XiMat	blood
26	chr21:46380000-46396600	Weak transcription	Brain Substantia Nigra	brain
27	chr21:46380200-46402600	Weak transcription	Aorta	Aorta
28	chr21:46380400-46384200	Weak transcription	Right Ventricle	heart
29	chr21:46380400-46385400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr21:46380400-46386200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr21:46380600-46383200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr21:46380600-46384000	Enhancers	Colon Smooth Muscle	Colon
33	chr21:46380600-46385400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr21:46380600-46385600	Weak transcription	Fetal Brain Female	brain
35	chr21:46380600-46385800	Weak transcription	Esophagus	oesophagus
36	chr21:46380800-46383800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr21:46380800-46384200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr21:46380800-46384200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr21:46380800-46385200	Weak transcription	A549	lung
40	chr21:46380800-46385400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr21:46380800-46385600	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr21:46380800-46385600	Weak transcription	Brain Germinal Matrix	brain
43	chr21:46380800-46385600	Weak transcription	Lung	lung
44	chr21:46380800-46387000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr21:46381200-46391200	Enhancers	Fetal Heart	heart
46	chr21:46381200-46396400	Weak transcription	Psoas Muscle	Psoas
47	chr21:46381400-46383600	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr21:46381400-46384000	Enhancers	HUVEC	blood vessel
49	chr21:46381400-46384200	Weak transcription	Fetal Intestine Large	intestine
50	chr21:46381400-46384800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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