Variant report

Variant	rs10000762
Chromosome Location	chr4:110747864-110747865
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	chr4:110747838-110748130	MCF10A-Er-Src	breast:	n/a	n/a
2	RAD21	chr4:110747803-110748286	IMR90	lung:	n/a	chr4:110748069-110748078 chr4:110748073-110748080 chr4:110748063-110748082
3	SMC3	chr4:110747839-110748233	Hela-S3	cervix:	n/a	chr4:110748067-110748081
4	RAD21	chr4:110747820-110748312	A549	lung:	n/a	chr4:110748069-110748078 chr4:110748073-110748080 chr4:110748063-110748082
5	RAD21	chr4:110747540-110748520	SK-N-SH	brain:	n/a	chr4:110748069-110748078 chr4:110748073-110748080 chr4:110748063-110748082
6	RAD21	chr4:110747798-110748345	A549	lung:	n/a	chr4:110748069-110748078 chr4:110748073-110748080 chr4:110748063-110748082
7	CTCF	chr4:110747700-110748438	A549	lung:	n/a	chr4:110748065-110748083 chr4:110748070-110748078 chr4:110748060-110748081
8	RAD21	chr4:110747808-110748364	HCT-116	colon:	n/a	chr4:110748069-110748078 chr4:110748073-110748080 chr4:110748063-110748082
9	RAD21	chr4:110747767-110748350	MCF-7	breast:	n/a	chr4:110748069-110748078 chr4:110748073-110748080 chr4:110748063-110748082
10	CTCF	chr4:110747793-110748337	HCT-116	colon:	n/a	chr4:110748065-110748083 chr4:110748070-110748078 chr4:110748060-110748081
11	CTCF	chr4:110747742-110748333	SK-N-SH	brain:	n/a	chr4:110748065-110748083 chr4:110748070-110748078 chr4:110748060-110748081
12	SMC3	chr4:110747523-110748415	SK-N-SH	brain:	n/a	chr4:110748067-110748081
13	RAD21	chr4:110747735-110748244	HepG2	liver:	n/a	chr4:110748069-110748078 chr4:110748073-110748080 chr4:110748063-110748082
14	RAD21	chr4:110747863-110748165	H1-hESC	embryonic stem cell:	n/a	chr4:110748069-110748078 chr4:110748073-110748080 chr4:110748063-110748082
15	CTCF	chr4:110747860-110748251	MCF-7	breast:	n/a	chr4:110748065-110748083 chr4:110748070-110748078 chr4:110748060-110748081
16	CTCF	chr4:110747858-110748334	IMR90	lung:	n/a	chr4:110748065-110748083 chr4:110748070-110748078 chr4:110748060-110748081
17	POLR2A	chr4:110747528-110748228	MCF10A-Er-Src	breast:	n/a	n/a
18	RAD21	chr4:110747851-110748275	Hela-S3	cervix:	n/a	chr4:110748069-110748078 chr4:110748073-110748080 chr4:110748063-110748082
19	RAD21	chr4:110747844-110748190	GM12878	blood:	n/a	chr4:110748069-110748078 chr4:110748073-110748080 chr4:110748063-110748082
20	POLR2A	chr4:110747401-110748982	K562	blood:	n/a	n/a
21	CTCF	chr4:110747800-110747950	WI-38	lung:	n/a	n/a
22	CTCF	chr4:110747820-110747970	GM12878	blood:	n/a	n/a
23	SMC3	chr4:110747853-110748254	K562	blood:	n/a	chr4:110748067-110748081
24	CTCF	chr4:110747720-110747870	GM12864	blood:	n/a	n/a
25	RAD21	chr4:110747731-110748381	HCT-116	colon:	n/a	chr4:110748069-110748078 chr4:110748073-110748080 chr4:110748063-110748082
26	RAD21	chr4:110747825-110748259	SK-N-SH_RA	brain:	n/a	chr4:110748069-110748078 chr4:110748073-110748080 chr4:110748063-110748082

No.	Distal block	Cell Line	Cell type
1	chr4:110348580..110349332-chr4:110747353..110748131,2	MCF-7	breast:
2	chr4:110349880..110352137-chr4:110747017..110748778,2	K562	blood:
3	chr4:110623815..110624763-chr4:110747548..110748525,5	K562	blood:
4	chr4:110746853..110748565-chr4:110758784..110761591,2	K562	blood:
5	chr4:110343261..110343867-chr4:110747612..110748494,2	K562	blood:

Variant related genes	Relation type
RRH	TF binding region
ENSG00000138794	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10002835	1.00[EUR][1000 genomes]
rs10003648	1.00[EUR][1000 genomes]
rs10008969	1.00[CEU][hapmap]
rs10011256	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs10015673	1.00[EUR][1000 genomes]
rs10018671	1.00[EUR][1000 genomes]
rs10018709	1.00[EUR][1000 genomes]
rs10021246	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs10021699	1.00[CEU][hapmap]
rs10024160	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10025706	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10027781	1.00[EUR][1000 genomes]
rs10028950	1.00[EUR][1000 genomes]
rs10029493	1.00[EUR][1000 genomes]
rs10029765	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10029774	1.00[EUR][1000 genomes]
rs10032001	1.00[EUR][1000 genomes]
rs11569065	1.00[EUR][1000 genomes]
rs11569134	1.00[EUR][1000 genomes]
rs12331156	1.00[EUR][1000 genomes]
rs17040963	1.00[CEU][hapmap]
rs1860131	1.00[CEU][hapmap]
rs28372160	1.00[EUR][1000 genomes]
rs28387677	1.00[EUR][1000 genomes]
rs28414645	1.00[EUR][1000 genomes]
rs28419786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28421711	1.00[EUR][1000 genomes]
rs28542074	1.00[EUR][1000 genomes]
rs28553469	1.00[EUR][1000 genomes]
rs28592692	1.00[EUR][1000 genomes]
rs28599924	1.00[EUR][1000 genomes]
rs28659909	1.00[EUR][1000 genomes]
rs28662394	1.00[EUR][1000 genomes]
rs28678255	1.00[EUR][1000 genomes]
rs28680960	1.00[EUR][1000 genomes]
rs28684716	1.00[EUR][1000 genomes]
rs28687523	1.00[EUR][1000 genomes]
rs28715029	1.00[EUR][1000 genomes]
rs28719677	1.00[EUR][1000 genomes]
rs28729403	1.00[EUR][1000 genomes]
rs28733095	1.00[EUR][1000 genomes]
rs28756348	1.00[AMR][1000 genomes]
rs28780412	1.00[EUR][1000 genomes]
rs28803170	1.00[EUR][1000 genomes]
rs28888150	1.00[EUR][1000 genomes]
rs28889289	1.00[EUR][1000 genomes]
rs28892978	1.00[EUR][1000 genomes]
rs41397647	1.00[EUR][1000 genomes]
rs41475346	1.00[EUR][1000 genomes]
rs59590892	1.00[EUR][1000 genomes]
rs72896557	1.00[EUR][1000 genomes]
rs7442505	1.00[EUR][1000 genomes]
rs7668395	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs9307346	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9990841	1.00[CEU][hapmap]
rs9991664	1.00[EUR][1000 genomes]
rs9992217	1.00[EUR][1000 genomes]
rs9992709	1.00[EUR][1000 genomes]
rs9993323	1.00[EUR][1000 genomes]
rs9994891	1.00[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110737600-110770600	Weak transcription	Aorta	Aorta
2	chr4:110737800-110748000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:110737800-110753200	Weak transcription	Lung	lung
4	chr4:110738000-110748400	Weak transcription	Small Intestine	intestine
5	chr4:110738000-110760800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:110738400-110748000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr4:110738400-110748000	Weak transcription	Ovary	ovary
8	chr4:110738400-110748400	Weak transcription	Right Ventricle	heart
9	chr4:110738400-110748600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:110738400-110757200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:110738600-110748400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:110738800-110748600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:110739000-110748400	Weak transcription	Fetal Brain Male	brain
14	chr4:110739000-110749800	Weak transcription	NHLF	lung
15	chr4:110739200-110748400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:110739200-110748600	Strong transcription	HSMM	muscle
17	chr4:110741000-110753000	Weak transcription	Left Ventricle	heart
18	chr4:110742200-110753000	Weak transcription	Fetal Kidney	kidney
19	chr4:110742200-110764400	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:110742400-110748000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:110742600-110748000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:110742600-110748000	Weak transcription	Brain Substantia Nigra	brain
23	chr4:110742600-110752400	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:110743800-110748000	Weak transcription	Thymus	Thymus
25	chr4:110744000-110748000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:110744000-110748600	Weak transcription	Pancreas	Pancrea
27	chr4:110744000-110759600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:110744400-110748200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:110744400-110748400	Weak transcription	HSMMtube	muscle
30	chr4:110744400-110748600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr4:110744400-110750600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr4:110744400-110774400	Weak transcription	Psoas Muscle	Psoas
33	chr4:110744600-110748000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:110744600-110748600	Weak transcription	GM12878-XiMat	blood
35	chr4:110744600-110749200	Weak transcription	Brain Anterior Caudate	brain
36	chr4:110744600-110749800	Weak transcription	NHEK	skin
37	chr4:110744600-110751000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:110744600-110751400	Weak transcription	A549	lung
39	chr4:110744600-110773200	Weak transcription	Primary T cells from cord blood	blood
40	chr4:110744800-110750400	Weak transcription	Fetal Intestine Large	intestine
41	chr4:110745800-110748200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:110745800-110748400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr4:110746200-110751800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr4:110746400-110748000	Weak transcription	Placenta	Placenta
45	chr4:110746400-110764000	Weak transcription	Primary B cells from cord blood	blood
46	chr4:110746600-110750200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:110746600-110750200	Weak transcription	Fetal Lung	lung
48	chr4:110746600-110761200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr4:110746800-110748400	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr4:110746800-110748400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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