Variant report

Variant	rs73906611
Chromosome Location	chr21:45198613-45198614
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:45198560-45198710	HEEpiC	esophagus:	n/a	n/a
2	POLR2A	chr21:45198463-45199230	U87	brain:	n/a	n/a
3	ELF1	chr21:45198584-45199210	K562	blood:	n/a	n/a
4	CTCF	chr21:45198600-45198750	HRPEpiC	eye:	n/a	n/a
5	POLR2A	chr21:45198484-45199230	U87	brain:	n/a	n/a
6	MYC	chr21:45198581-45198850	NB4	blood:	n/a	n/a
7	POLR2A	chr21:45198533-45199063	HepG2	liver:	n/a	n/a
8	ZBTB7A	chr21:45198578-45198944	K562	blood:	n/a	n/a
9	ELF1	chr21:45198455-45198868	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45198592-45198642	HEK293	kidney:	embryo
2	chr21:45198592-45198642	BE2_C	brain:	n/a
3	chr21:45198592-45198642	U87	brain:	n/a
4	chr21:45198592-45198642	ECC-1	luminal epithelium:	n/a
5	chr21:45198592-45198642	HIPEpiC	eye:	n/a
6	chr21:45198592-45198642	HUVEC	blood vessel:	n/a
7	chr21:45198592-45198642	CMK	blood:	n/a
8	chr21:45198592-45198642	PANC-1	pancreas:	n/a
9	chr21:45198592-45198642	GM12878	blood:	n/a
10	chr21:45198592-45198642	NB4	blood:	n/a
11	chr21:45198592-45198642	HRCEpiC	kidney:	n/a
12	chr21:45198592-45198642	SK-N-SH	brain:	n/a
13	chr21:45198592-45198642	T-47D	breast:	n/a
14	chr21:45198592-45198642	HPAEpiC	pulmonary alveolar:	n/a
15	chr21:45198592-45198642	SK-N-MC	brain:	n/a
16	chr21:45198592-45198642	H1-hESC	embryonic stem cell:	embryo
17	chr21:45198592-45198642	HepG2	liver:	n/a
18	chr21:45198592-45198642	Hela-S3	cervix:	n/a
19	chr21:45198592-45198642	NT2-D1	testis:	n/a
20	chr21:45198592-45198642	Caco-2	colon:	n/a
21	chr21:45198592-45198642	K562	blood:	n/a
22	chr21:45198592-45198642	HRE	kidney:	n/a
23	chr21:45198592-45198642	HCF	heart:	n/a
24	chr21:45198592-45198642	GM12892	blood:	n/a
25	chr21:45198592-45198642	NHDF-neo	bronchial:	n/a
26	chr21:45198592-45198642	PFSK-1	brain:	n/a
27	chr21:45198592-45198642	BJ	skin:	n/a
28	chr21:45198592-45198642	Jurkat	blood:	n/a
29	chr21:45198592-45198642	AG04449	skin:	fetal
30	chr21:45198592-45198642	AG09309	skin:	n/a
31	chr21:45198592-45198642	HCPEpiC	choroid plexus:	n/a
32	chr21:45198592-45198642	NH-A	brain:	n/a
33	chr21:45198592-45198642	GM06990	blood:	n/a
34	chr21:45198592-45198642	MCF10A-Er-Src	breast:	n/a
35	chr21:45198592-45198642	HL-60	blood:	n/a
36	chr21:45198592-45198642	HCT-116	colon:	n/a
37	chr21:45198592-45198642	MCF-7	breast:	n/a
38	chr21:45198592-45198642	AG09319	gingival:	n/a
39	chr21:45198592-45198642	RPTEC	kidney:	n/a
40	chr21:45198592-45198642	LNCaP	prostate:	n/a
41	chr21:45198592-45198642	PrEC	prostate:	n/a
42	chr21:45198592-45198642	AG04450	lung:	fetal
43	chr21:45198592-45198642	HCM	heart:	n/a
44	chr21:45198592-45198642	ovcar-3	ovarian:	n/a
45	chr21:45198592-45198642	GM12891	blood:	n/a
46	chr21:45198592-45198642	HRPEpiC	eye:	n/a
47	chr21:45198592-45198642	SKMC	muscle:	n/a
48	chr21:45198592-45198642	HEEpiC	esophagus:	n/a
49	chr21:45198592-45198642	AoSMC	blood vessel:	n/a
50	chr21:45198592-45198642	HMEC	breast:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45147195..45149472-chr21:45196303..45198972,2	K562	blood:
2	chr21:45195296..45199656-chr21:45201104..45204314,12	MCF-7	breast:
3	chr21:45137876..45142347-chr21:45194759..45200624,9	MCF-7	breast:
4	chr21:45138069..45142004-chr21:45192681..45200004,8	MCF-7	breast:
5	chr21:45141572..45144183-chr21:45194386..45198670,4	K562	blood:

No data

Variant related genes	Relation type
CSTB	TF binding region
TMEM97P1	TF binding region
CSTB	CpG island
TMEM97P1	CpG island
ENSG00000234030	Chromatin interaction
ENSG00000160209	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs57815996	1.00[AMR][1000 genomes]
rs58028593	1.00[AMR][1000 genomes]
rs59208251	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61160035	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7276461	1.00[AMR][1000 genomes]
rs7276663	1.00[AMR][1000 genomes]
rs7277203	1.00[AMR][1000 genomes]
rs73906661	1.00[AMR][1000 genomes]
rs8129408	1.00[AMR][1000 genomes]
rs8129421	1.00[AMR][1000 genomes]
rs8132862	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2830066	chr21:45133868-45258047	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv913879	chr21:45145286-45237039	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv913880	chr21:45145286-45263920	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv913881	chr21:45145286-45267193	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv1055154	chr21:45148076-45203162	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv470904	chr21:45151045-45258047	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
13	nsv520305	chr21:45175958-45246326	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
15	nsv913883	chr21:45191139-45252838	Weak transcription Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv913884	chr21:45191139-45255836	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	nsv544469	chr21:45194085-45257959	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45196800-45199400	Enhancers	Primary T cells fromperipheralblood	blood
2	chr21:45196800-45199600	Weak transcription	Right Ventricle	heart
3	chr21:45196800-45199800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr21:45196800-45200600	Weak transcription	NHEK	skin
5	chr21:45196800-45201000	Weak transcription	Fetal Intestine Large	intestine
6	chr21:45196800-45202000	Weak transcription	Liver	Liver
7	chr21:45196800-45203000	Weak transcription	Lung	lung
8	chr21:45196800-45206400	Weak transcription	Gastric	stomach
9	chr21:45196800-45206400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr21:45196800-45208800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr21:45196800-45209000	Weak transcription	Aorta	Aorta
12	chr21:45197000-45198800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr21:45197000-45200000	Enhancers	Dnd41	blood
14	chr21:45197000-45200800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr21:45197400-45200000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr21:45197600-45199200	Enhancers	K562	blood
17	chr21:45197600-45200000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr21:45197800-45198800	Flanking Active TSS	Esophagus	oesophagus
19	chr21:45197800-45199000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr21:45197800-45199200	Enhancers	Primary T cells from cord blood	blood
21	chr21:45197800-45199800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr21:45198000-45198800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr21:45198000-45198800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr21:45198000-45199000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr21:45198000-45199000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr21:45198000-45199000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr21:45198000-45199000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr21:45198000-45199000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr21:45198000-45199000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr21:45198000-45199000	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr21:45198000-45199000	Enhancers	A549	lung
32	chr21:45198000-45199200	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr21:45198000-45199200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr21:45198000-45199200	Flanking Active TSS	HepG2	liver
35	chr21:45198000-45199200	Enhancers	HMEC	breast
36	chr21:45198000-45199400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr21:45198000-45199800	Enhancers	Fetal Thymus	thymus
38	chr21:45198000-45200000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr21:45198200-45198800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr21:45198200-45198800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr21:45198200-45198800	Enhancers	Brain Cingulate Gyrus	brain
42	chr21:45198200-45198800	Enhancers	Brain Hippocampus Middle	brain
43	chr21:45198200-45198800	Enhancers	Brain Substantia Nigra	brain
44	chr21:45198200-45198800	Enhancers	Duodenum Mucosa	Duodenum
45	chr21:45198200-45199000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr21:45198200-45199000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr21:45198200-45199000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr21:45198200-45199000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr21:45198200-45199000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr21:45198200-45199000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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