Variant report

Variant	rs73702611
Chromosome Location	chr8:120781386-120781387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:204)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:204 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:120781340-120781490	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr8:120781131-120781704	MCF-7	breast:	n/a	n/a
3	RUNX3	chr8:120781269-120781612	GM12878	blood:	n/a	n/a
4	CTCF	chr8:120781340-120781490	GM12867	blood:	n/a	n/a
5	CTCF	chr8:120781320-120781470	GM12878	blood:	n/a	n/a
6	CTCF	chr8:120781075-120781500	GM12892	blood:	n/a	n/a
7	CTCF	chr8:120781320-120781470	BJ	skin:	n/a	n/a
8	CTCF	chr8:120781360-120781510	HRE	kidney:	n/a	n/a
9	CTCF	chr8:120781267-120781534	HepG2	liver:	n/a	n/a
10	FOXP2	chr8:120781219-120781482	SK-N-MC	brain:	n/a	n/a
11	RAD21	chr8:120781246-120781506	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr8:120781360-120781510	BE2_C	brain:	n/a	n/a
13	CTCF	chr8:120781156-120781635	HepG2	liver:	n/a	n/a
14	CTCF	chr8:120781300-120781450	GM12870	blood:	n/a	n/a
15	CTCF	chr8:120781380-120781530	HCM	heart:	n/a	n/a
16	EBF1	chr8:120781332-120781528	GM12878	blood:	n/a	n/a
17	RAD21	chr8:120781288-120781570	GM12878	blood:	n/a	n/a
18	CTCF	chr8:120781380-120781530	HEEpiC	esophagus:	n/a	n/a
19	FOXA1	chr8:120781192-120781568	HepG2	liver:	n/a	chr8:120781346-120781361
20	CEBPB	chr8:120781218-120781571	MCF-7	breast:	n/a	n/a
21	CTCF	chr8:120781360-120781510	HPF	lung:	n/a	n/a
22	RCOR1	chr8:120781302-120781583	HepG2	liver:	n/a	n/a
23	CTCF	chr8:120781340-120781490	HepG2	liver:	n/a	n/a
24	CTCF	chr8:120781294-120781550	HepG2	liver:	n/a	n/a
25	CTCF	chr8:120781340-120781490	HCPEpiC	choroid plexus:	n/a	n/a
26	CTCF	chr8:120781264-120781551	A549	lung:	n/a	n/a
27	CTCF	chr8:120781360-120781510	HAc	cerebellar:	n/a	n/a
28	CTCF	chr8:120781320-120781470	GM12871	blood:	n/a	n/a
29	CTCF	chr8:120781360-120781510	NB4	blood:	n/a	n/a
30	CTCF	chr8:120781294-120781529	NHEK	skin:	n/a	n/a
31	CTCF	chr8:120781360-120781510	HMEC	breast:	n/a	n/a
32	CTCF	chr8:120781276-120781573	Gliobla	brain:	n/a	n/a
33	CTCF	chr8:120780737-120781837	SK-N-SH	brain:	n/a	n/a
34	CTCF	chr8:120781360-120781510	GM12874	blood:	n/a	n/a
35	RAD21	chr8:120781233-120781600	GM12878	blood:	n/a	n/a
36	CTCF	chr8:120781275-120781549	LNCaP	prostate:	n/a	n/a
37	CTCF	chr8:120781340-120781490	HL-60	blood:	n/a	n/a
38	CTCF	chr8:120781269-120781494	A549	lung:	n/a	n/a
39	CTCF	chr8:120781360-120781510	HRPEpiC	eye:	n/a	n/a
40	CTCF	chr8:120781287-120781545	MCF-7	breast:	n/a	n/a
41	CTCF	chr8:120781331-120781516	GM20000	blood:	n/a	n/a
42	CTCF	chr8:120781300-120781450	SAEC	small airway:	n/a	n/a
43	FOXA2	chr8:120781208-120781522	HepG2	liver:	n/a	n/a
44	CTCF	chr8:120781260-120781410	HFF-Myc	foreskin:	n/a	n/a
45	RAD21	chr8:120781096-120781719	HCT-116	colon:	n/a	n/a
46	TCF12	chr8:120781295-120781493	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr8:120781208-120781573	T-47D	breast:	n/a	n/a
48	CTCF	chr8:120781340-120781490	HRE	kidney:	n/a	n/a
49	RAD21	chr8:120781223-120781590	IMR90	lung:	n/a	n/a
50	CTCF	chr8:120781320-120781470	NHEK	skin:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:120463656..120464592-chr8:120781252..120781874,3	MCF-7	breast:
2	chr8:120768049..120770644-chr8:120780235..120782519,2	K562	blood:
3	chr8:120657089..120657913-chr8:120780921..120781891,3	MCF-7	breast:
4	chr8:120780615..120783481-chr8:120844519..120846173,2	MCF-7	breast:
5	chr8:120657064..120658055-chr8:120780724..120781920,4	MCF-7	breast:
6	chr8:120463819..120464446-chr8:120781087..120781876,2	K562	blood:

No data

Variant related genes	Relation type
TAF2	TF binding region
ENSG00000064313	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73706221	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr8:120742400-120782600	Weak transcription	Fetal Heart	heart
2	chr8:120742600-120812800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:120744000-120814600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:120744400-120824400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:120759200-120790600	Weak transcription	Fetal Brain Male	brain
6	chr8:120760600-120804600	Weak transcription	Psoas Muscle	Psoas
7	chr8:120761600-120800800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:120766600-120784000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:120767200-120807400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:120768600-120786800	Weak transcription	Small Intestine	intestine
11	chr8:120770400-120787400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:120771000-120789000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr8:120773400-120788800	Weak transcription	NHDF-Ad	bronchial
14	chr8:120773400-120789400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:120773600-120795000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:120776400-120783000	Strong transcription	Dnd41	blood
17	chr8:120776400-120797800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr8:120776600-120784600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:120776600-120784800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr8:120776800-120781400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:120777400-120781400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:120777400-120781400	Strong transcription	Placenta	Placenta
23	chr8:120777400-120784000	Strong transcription	Primary T cells from cord blood	blood
24	chr8:120777400-120785000	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr8:120777600-120781400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr8:120777600-120781400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr8:120777600-120781600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:120777600-120781800	Strong transcription	Fetal Thymus	thymus
29	chr8:120777600-120784000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:120777800-120781400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:120777800-120784800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:120777800-120787200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr8:120778000-120781400	Strong transcription	Primary B cells from cord blood	blood
34	chr8:120778000-120781400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr8:120778200-120781400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr8:120778200-120781400	Strong transcription	Fetal Intestine Large	intestine
37	chr8:120778400-120781400	Strong transcription	Right Ventricle	heart
38	chr8:120778400-120781600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr8:120778400-120784200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:120778600-120781400	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr8:120778600-120781400	Strong transcription	Fetal Stomach	stomach
42	chr8:120778600-120783000	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr8:120778600-120783600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:120778600-120784200	Strong transcription	Fetal Lung	lung
45	chr8:120778600-120784800	Strong transcription	Primary hematopoietic stem cells	blood
46	chr8:120778800-120781600	Strong transcription	Fetal Intestine Small	intestine
47	chr8:120778800-120783800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr8:120779000-120781400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:120779000-120781400	Strong transcription	Hela-S3	cervix
50	chr8:120779200-120781400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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