Variant report

Variant	rs746842
Chromosome Location	chr10:94050988-94050989
allele	C/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	chr10:94050596-94051246	A549	lung:	n/a	n/a
2	TEAD4	chr10:94050668-94051163	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr10:94049856-94051379	ECC-1	luminal epithelium:	n/a	n/a
4	CTCF	chr10:94050556-94051141	K562	blood:	n/a	chr10:94050753-94050762 chr10:94050827-94050840
5	POLR2A	chr10:94050338-94051378	GM15510	blood:	n/a	n/a
6	TAF1	chr10:94049913-94051473	ECC-1	luminal epithelium:	n/a	n/a
7	CTCF	chr10:94050940-94051090	GM12878	blood:	n/a	n/a
8	POLR2A	chr10:94050533-94051291	HepG2	liver:	n/a	n/a
9	EGR1	chr10:94049884-94051356	HCT-116	colon:	n/a	chr10:94051056-94051066 chr10:94050099-94050112 chr10:94050603-94050616 chr10:94050098-94050113 chr10:94050901-94050910 chr10:94050397-94050411 chr10:94050400-94050413 chr10:94051299-94051309 chr10:94050530-94050540 chr10:94050445-94050459 chr10:94050100-94050109 chr10:94050853-94050877 chr10:94050399-94050414
10	PML	chr10:94050574-94051216	MCF-7	breast:	n/a	n/a
11	FOS	chr10:94050756-94051089	MCF10A-Er-Src	breast:	n/a	n/a
12	CTCF	chr10:94050661-94051279	Spleen_OC	spleen:	n/a	chr10:94050753-94050762 chr10:94050827-94050840
13	EP300	chr10:94050696-94051068	HepG2	liver:	n/a	chr10:94050959-94050968 chr10:94050900-94050916
14	HA-E2F1	chr10:94050526-94051274	Hela-S3	cervix:	n/a	chr10:94051144-94051154
15	TAF1	chr10:94050030-94051398	H1-hESC	embryonic stem cell:	n/a	n/a
16	GABPA	chr10:94050862-94051068	Hela-S3	cervix:	n/a	chr10:94050959-94050968
17	MAX	chr10:94050520-94051342	MCF-7	breast:	n/a	n/a
18	YY1	chr10:94049971-94051421	ECC-1	luminal epithelium:	n/a	chr10:94051227-94051241 chr10:94051088-94051099 chr10:94050334-94050345 chr10:94051091-94051100 chr10:94051140-94051151 chr10:94051060-94051069 chr10:94050791-94050802 chr10:94050770-94050784
19	CTCF	chr10:94050604-94051157	GM12891	blood:	n/a	chr10:94050753-94050762 chr10:94050827-94050840
20	TEAD4	chr10:94050665-94051219	A549	lung:	n/a	n/a
21	FOXA1	chr10:94050515-94051245	HepG2	liver:	n/a	n/a
22	SIX5	chr10:94050680-94051010	K562	blood:	n/a	chr10:94050856-94050865 chr10:94050852-94050866 chr10:94050854-94050863
23	BCL3	chr10:94050505-94051165	A549	lung:	n/a	chr10:94050797-94050806 chr10:94050585-94050592 chr10:94051091-94051104 chr10:94051090-94051099
24	RFX5	chr10:94050649-94051105	GM12878	blood:	n/a	n/a
25	RAD21	chr10:94050076-94051205	SK-N-SH_RA	brain:	n/a	chr10:94050831-94050843 chr10:94050833-94050840
26	GTF2F1	chr10:94049890-94051024	Hela-S3	cervix:	n/a	n/a
27	MYC	chr10:94050875-94051063	K562	blood:	n/a	n/a
28	NFIC	chr10:94050543-94051353	HepG2	liver:	n/a	n/a
29	HEY1	chr10:94050484-94051253	HepG2	liver:	n/a	chr10:94051087-94051102 chr10:94050791-94050806
30	TAF1	chr10:94050204-94051213	K562	blood:	n/a	n/a
31	TAF1	chr10:94050574-94051099	Hela-S3	cervix:	n/a	n/a
32	SREBP1	chr10:94049892-94051501	GM12878	blood:	n/a	n/a
33	JUND	chr10:94049943-94051264	K562	blood:	n/a	chr10:94050069-94050080
34	ELF1	chr10:94050482-94051053	A549	lung:	n/a	chr10:94050569-94050581 chr10:94050799-94050808
35	SP1	chr10:94050637-94051180	GM12878	blood:	n/a	chr10:94051026-94051035 chr10:94051038-94051052
36	ZBTB7A	chr10:94049935-94051479	ECC-1	luminal epithelium:	n/a	n/a
37	PML	chr10:94049865-94051080	K562	blood:	n/a	n/a
38	PAX5	chr10:94050440-94051445	GM12892	blood:	n/a	n/a
39	EGR1	chr10:94049754-94051445	HCT-116	colon:	n/a	chr10:94051056-94051066 chr10:94050099-94050112 chr10:94050603-94050616 chr10:94050098-94050113 chr10:94050901-94050910 chr10:94050397-94050411 chr10:94050400-94050413 chr10:94051299-94051309 chr10:94050530-94050540 chr10:94050445-94050459 chr10:94050100-94050109 chr10:94050853-94050877 chr10:94050399-94050414
40	RFX5	chr10:94050634-94051311	HepG2	liver:	n/a	n/a
41	CREB1	chr10:94049883-94051564	HepG2	liver:	n/a	n/a
42	TAF1	chr10:94050266-94051319	H1-neurons	neurons:	n/a	n/a
43	TAF1	chr10:94050666-94051360	A549	lung:	n/a	n/a
44	ETS1	chr10:94050520-94051081	GM12878	blood:	n/a	chr10:94051060-94051071 chr10:94050598-94050611 chr10:94050852-94050865 chr10:94051054-94051065
45	GATA3	chr10:94050576-94051087	T-47D	breast:	n/a	n/a
46	IRF4	chr10:94050551-94051053	GM12878	blood:	n/a	n/a
47	POLR2A	chr10:94050609-94051244	HepG2	liver:	n/a	n/a
48	RFX5	chr10:94050632-94050996	H1-hESC	embryonic stem cell:	n/a	n/a
49	ETS1	chr10:94050668-94051019	A549	lung:	n/a	chr10:94050852-94050865
50	MAX	chr10:94049839-94051562	ECC-1	luminal epithelium:	n/a	chr10:94050400-94050410 chr10:94051513-94051522

No.	Distal block	Cell Line	Cell type
1	chr10:94050937..94052594-chr10:94052946..94055735,2	MCF-7	breast:
2	chr10:94002101..94003735-chr10:94050527..94052941,2	K562	blood:
3	chr10:93973011..93976411-chr10:94049477..94051967,3	K562	blood:
4	chr10:94050380..94051225-chrX:70585319..70586284,2	Hela-S3	cervix:
5	chr10:94050798..94051586-chr5:61601516..61602145,2	Hela-S3	cervix:

Variant related genes	Relation type
CPEB3	TF binding region
ENSG00000107864	Chromatin interaction
ENSG00000105988	Chromatin interaction
ENSG00000147133	Chromatin interaction
ENSG00000068796	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10509644	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs1057848	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs10882030	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10882031	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10882037	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10882038	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10882044	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11186839	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11186841	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11186842	0.81[ASN][1000 genomes]
rs11186843	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11186852	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11186856	0.90[CEU][hapmap]
rs11186859	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11186860	0.91[CEU][hapmap];0.94[CHB][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11186866	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11186867	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11186868	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11186870	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11186875	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11186876	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11186878	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11186879	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11186880	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11186881	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11186884	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11186888	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11186892	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11186894	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11186895	0.94[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11186896	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11186897	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11186898	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11186899	0.88[ASN][1000 genomes]
rs11186903	0.81[ASN][1000 genomes]
rs11186923	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs11186926	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs12355759	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12358721	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12358765	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12359038	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17107517	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2421831	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28661623	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3781230	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3781231	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56239008	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61875208	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61875210	0.91[ASN][1000 genomes]
rs61875221	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6583802	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6583805	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7067935	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7071524	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7073862	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7074059	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7088903	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72807264	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7905301	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9787608	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv975763	chr10:93822289-94105956	Enhancers Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 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	chr10:94049600-94052000	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr10:94049600-94052000	Active TSS	Hela-S3	cervix
3	chr10:94049600-94052200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr10:94049600-94052200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:94049600-94052200	Active TSS	HMEC	breast
6	chr10:94049600-94052200	Active TSS	K562	blood
7	chr10:94049600-94052400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr10:94049600-94052400	Active TSS	Right Atrium	heart
9	chr10:94049600-94052600	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr10:94049600-94052600	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr10:94049600-94052600	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr10:94049800-94051000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr10:94049800-94051200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:94049800-94051800	Active TSS	Brain Cingulate Gyrus	brain
15	chr10:94049800-94051800	Active TSS	Brain Hippocampus Middle	brain
16	chr10:94049800-94051800	Active TSS	Colonic Mucosa	Colon
17	chr10:94049800-94051800	Active TSS	Fetal Lung	lung
18	chr10:94049800-94051800	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr10:94049800-94051800	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr10:94049800-94052000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:94049800-94052000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr10:94049800-94052000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr10:94049800-94052000	Active TSS	Muscle Satellite Cultured Cells	--
24	chr10:94049800-94052000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr10:94049800-94052000	Active TSS	Brain Angular Gyrus	brain
26	chr10:94049800-94052000	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr10:94049800-94052000	Active TSS	Fetal Brain Female	brain
28	chr10:94049800-94052000	Active TSS	Fetal Intestine Large	intestine
29	chr10:94049800-94052000	Active TSS	Fetal Kidney	kidney
30	chr10:94049800-94052000	Active TSS	Fetal Stomach	stomach
31	chr10:94049800-94052000	Active TSS	Rectal Smooth Muscle	rectum
32	chr10:94049800-94052000	Active TSS	Thymus	Thymus
33	chr10:94049800-94052000	Active TSS	A549	lung
34	chr10:94049800-94052200	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr10:94049800-94052200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr10:94049800-94052200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:94049800-94052200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr10:94049800-94052200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr10:94049800-94052200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr10:94049800-94052200	Active TSS	Fetal Intestine Small	intestine
41	chr10:94049800-94052200	Active TSS	Pancreas	Pancrea
42	chr10:94049800-94052200	Active TSS	HSMM	muscle
43	chr10:94049800-94052200	Active TSS	NHDF-Ad	bronchial
44	chr10:94049800-94052400	Active TSS	H9 Cell Line	embryonic stem cell
45	chr10:94049800-94052400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr10:94049800-94052400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr10:94049800-94052400	Active TSS	Ovary	ovary
48	chr10:94049800-94052600	Active TSS	H1 Cell Line	embryonic stem cell
49	chr10:94049800-94052600	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr10:94049800-94052600	Active TSS	HSMMtube	muscle

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