Variant report

Variant	rs741779
Chromosome Location	chr8:91013541-91013542
allele	C/T
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	chr8:91013014-91014273	K562	blood:	n/a	n/a
2	POLR2A	chr8:91013134-91013990	A549	lung:	n/a	n/a
3	POLR2A	chr8:91013002-91013861	GM12891	blood:	n/a	n/a
4	TAF1	chr8:91013054-91014024	K562	blood:	n/a	n/a
5	E2F4	chr8:91013134-91013789	MCF10A-Er-Src	breast:	n/a	chr8:91013658-91013670
6	POLR2A	chr8:91012876-91013925	GM12892	blood:	n/a	n/a
7	TBP	chr8:91012874-91013761	GM12878	blood:	n/a	n/a
8	NFIC	chr8:91012951-91013573	HepG2	liver:	n/a	n/a
9	TAF1	chr8:91013441-91013836	Hela-S3	cervix:	n/a	n/a
10	HEY1	chr8:91012958-91013891	HepG2	liver:	n/a	chr8:91013534-91013549
11	ELF1	chr8:91013045-91013803	HepG2	liver:	n/a	n/a
12	USF2	chr8:91013099-91013737	H1-hESC	embryonic stem cell:	n/a	n/a
13	CREB1	chr8:91012973-91013972	GM12878	blood:	n/a	n/a
14	POLR2A	chr8:91012981-91014787	GM19099	blood:	n/a	n/a
15	CTCF	chr8:91013400-91013550	HAc	cerebellar:	n/a	chr8:91013537-91013550
16	TBP	chr8:91012951-91014800	K562	blood:	n/a	n/a
17	CTCF	chr8:91013030-91013767	GM19238	blood:	n/a	chr8:91013537-91013550 chr8:91013685-91013701
18	GTF3C2	chr8:91012900-91013585	Hela-S3	cervix:	n/a	n/a
19	E2F6	chr8:91013415-91013774	K562	blood:	n/a	chr8:91013658-91013670
20	SP1	chr8:91013383-91013833	H1-hESC	embryonic stem cell:	n/a	chr8:91013660-91013669 chr8:91013660-91013674 chr8:91013661-91013670 chr8:91013659-91013671 chr8:91013659-91013671
21	TAF1	chr8:91013463-91013833	SK-N-SH	brain:	n/a	n/a
22	CTCF	chr8:91013520-91013670	HMEC	breast:	n/a	chr8:91013537-91013550
23	POLR2A	chr8:91012908-91015027	PBDE	blood:	n/a	n/a
24	MAX	chr8:91012818-91013988	A549	lung:	n/a	n/a
25	POLR2A	chr8:91013037-91013944	GM12891	blood:	n/a	n/a
26	GATA3	chr8:91012718-91013799	T-47D	breast:	n/a	n/a
27	MAX	chr8:91012986-91013826	K562	blood:	n/a	n/a
28	E2F6	chr8:91013004-91013781	A549	lung:	n/a	chr8:91013658-91013670
29	CTCF	chr8:91013019-91013862	H1-hESC	embryonic stem cell:	n/a	chr8:91013537-91013550 chr8:91013685-91013701
30	BRCA1	chr8:91012833-91013826	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr8:91012921-91013900	HCT-116	colon:	n/a	n/a
32	POLR2A	chr8:91013102-91014065	HepG2	liver:	n/a	n/a
33	POLR2A	chr8:91013182-91014225	GM10847	blood:	n/a	n/a
34	TCF7L2	chr8:91013017-91014233	HCT-116	colon:	n/a	chr8:91013646-91013656
35	TCF7L2	chr8:91013036-91014653	Hela-S3	cervix:	n/a	chr8:91013646-91013656
36	RAD21	chr8:91012769-91013993	MCF-7	breast:	n/a	chr8:91013663-91013673
37	CTCF	chr8:91013540-91013690	HMF	breast:	n/a	n/a
38	TCF12	chr8:91012864-91014064	ECC-1	luminal epithelium:	n/a	chr8:91013043-91013052
39	CTCF	chr8:91012861-91013960	K562	blood:	n/a	chr8:91013537-91013550 chr8:91013685-91013701
40	CTCF	chr8:91012888-91013853	K562	blood:	n/a	chr8:91013537-91013550 chr8:91013685-91013701
41	TAF7	chr8:91013141-91013823	H1-hESC	embryonic stem cell:	n/a	n/a
42	MYBL2	chr8:91012885-91013803	HepG2	liver:	n/a	n/a
43	CTCF	chr8:91013423-91013784	Spleen_OC	spleen:	n/a	chr8:91013537-91013550 chr8:91013685-91013701
44	SIN3A	chr8:91013016-91014418	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr8:91013433-91013740	GM10248	blood:	n/a	chr8:91013537-91013550 chr8:91013685-91013701
46	TAL1	chr8:91012853-91013784	K562	blood:	n/a	n/a
47	ELF1	chr8:91013454-91013859	HepG2	liver:	n/a	n/a
48	MAX	chr8:91013021-91013820	SK-N-SH	brain:	n/a	n/a
49	RUNX3	chr8:91012930-91013958	GM12878	blood:	n/a	n/a
50	JUND	chr8:91012991-91013893	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:91012176..91015175-chr8:91997197..91999133,2	K562	blood:
2	chr8:90995093..90997814-chr8:91010770..91014611,5	MCF-7	breast:
3	chr19:19729717..19731294-chr8:91013062..91014796,2	MCF-7	breast:
4	chr8:90993651..90998172-chr8:91012740..91014695,4	MCF-7	breast:
5	chr8:91011918..91015233-chr8:91657389..91660471,3	K562	blood:
6	chr8:71315651..71316239-chr8:91013283..91014162,2	HCT-116	colon:
7	chr8:91012457..91016466-chr8:91233540..91237741,4	K562	blood:
8	chr8:90995516..90998828-chr8:91010778..91014105,5	K562	blood:
9	chr8:90996289..90998136-chr8:91010778..91015164,5	K562	blood:
10	chr8:90914281..90916675-chr8:91011002..91013854,2	MCF-7	breast:
11	chr8:91012528..91015432-chr8:91026705..91029174,2	MCF-7	breast:

Variant related genes	Relation type
DECR1	TF binding region
ENSG00000140396	Chromatin interaction
ENSG00000104325	Chromatin interaction
ENSG00000246792	Chromatin interaction
ENSG00000180694	Chromatin interaction
ENSG00000253394	Chromatin interaction
ENSG00000105717	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000253250	Chromatin interaction
ENSG00000164823	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10098170	1.00[ASN][1000 genomes]
rs10099102	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282890	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504887	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1076559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986818	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11989543	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11989795	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991697	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992856	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995294	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998021	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114835	1.00[ASN][1000 genomes]
rs13312839	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13312846	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805785	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1805805	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805820	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805829	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805866	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805879	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28376519	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28654557	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4477076	0.89[AFR][1000 genomes]
rs58332188	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6470521	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992671	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998280	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005583	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009268	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013140	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7017304	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72550706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812899	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7813356	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818989	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821822	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7823833	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831876	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834469	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840431	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972376	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91012800-91013600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:91012800-91014400	Active TSS	Fetal Brain Female	brain
3	chr8:91012800-91014600	Active TSS	Monocytes-CD14+_RO01746	blood
4	chr8:91012800-91014800	Active TSS	Fetal Brain Male	brain
5	chr8:91012800-91015000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:91012800-91015200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:91012800-91015200	Active TSS	Thymus	Thymus
8	chr8:91013000-91013600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr8:91013000-91013600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:91013000-91013600	Flanking Active TSS	HMEC	breast
11	chr8:91013000-91014200	Active TSS	Primary B cells from cord blood	blood
12	chr8:91013000-91014400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr8:91013000-91014400	Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr8:91013000-91014400	Active TSS	Brain Germinal Matrix	brain
15	chr8:91013000-91014400	Active TSS	Fetal Kidney	kidney
16	chr8:91013000-91014600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr8:91013000-91014600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:91013000-91014600	Active TSS	Brain Cingulate Gyrus	brain
19	chr8:91013000-91014600	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr8:91013000-91014600	Active TSS	Hela-S3	cervix
21	chr8:91013000-91014800	Active TSS	H1 Cell Line	embryonic stem cell
22	chr8:91013000-91014800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:91013000-91014800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:91013000-91014800	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr8:91013000-91014800	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr8:91013000-91014800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:91013000-91014800	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr8:91013000-91014800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:91013000-91014800	Active TSS	Brain Substantia Nigra	brain
30	chr8:91013000-91014800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr8:91013000-91014800	Active TSS	Fetal Muscle Trunk	muscle
32	chr8:91013000-91014800	Active TSS	Stomach Mucosa	stomach
33	chr8:91013000-91015000	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr8:91013000-91015000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:91013000-91015000	Active TSS	Primary monocytes fromperipheralblood	blood
36	chr8:91013000-91015000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:91013000-91015000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:91013000-91015000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:91013000-91015000	Active TSS	Brain Angular Gyrus	brain
40	chr8:91013000-91015000	Active TSS	Colon Smooth Muscle	Colon
41	chr8:91013000-91015000	Active TSS	Fetal Muscle Leg	muscle
42	chr8:91013000-91015000	Active TSS	Right Ventricle	heart
43	chr8:91013000-91015000	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr8:91013000-91015200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:91013000-91015200	Active TSS	Fetal Intestine Small	intestine
46	chr8:91013000-91015200	Active TSS	Stomach Smooth Muscle	stomach
47	chr8:91013200-91013600	Flanking Active TSS	HUVEC	blood vessel
48	chr8:91013200-91013800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:91013200-91014000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:91013200-91014200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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