Variant report

Variant	rs214877
Chromosome Location	chr7:110753462-110753463
allele	A/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	NFIC	chr7:110753302-110754162	SK-N-SH	brain:	n/a	chr7:110753657-110753673
2	ZNF384	chr7:110753388-110753874	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:110753207-110753722	H1-neurons	neurons:	n/a	n/a
4	REST	chr7:110753091-110754030	H1-neurons	neurons:	n/a	n/a
5	JUND	chr7:110753208-110754473	SK-N-SH	brain:	n/a	chr7:110753880-110753889
6	GATA3	chr7:110753336-110754524	SK-N-SH	brain:	n/a	n/a
7	TCF7L2	chr7:110753355-110754752	Hela-S3	cervix:	n/a	chr7:110753868-110753882 chr7:110753863-110753873 chr7:110753859-110753875 chr7:110753863-110753870 chr7:110753641-110753650
8	TCF12	chr7:110753451-110754038	SK-N-SH	brain:	n/a	n/a
9	PBX3	chr7:110753369-110754547	SK-N-SH	brain:	n/a	n/a
10	TCF7L2	chr7:110753402-110754203	HEK293	kidney:	n/a	chr7:110753868-110753882 chr7:110753863-110753873 chr7:110753859-110753875 chr7:110753863-110753870 chr7:110753641-110753650
11	POLR2A	chr7:110753202-110753682	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:110746968..110749404-chr7:110751874..110753863,2	K562	blood:
2	chr7:110742569..110744859-chr7:110752777..110754849,2	K562	blood:
3	chr7:110746968..110750467-chr7:110751146..110753863,3	K562	blood:

Variant related genes	Relation type
ENSG00000238922	TF binding region
ENSG00000238922	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1014269	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1014270	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1014271	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10237613	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[EUR][1000 genomes]
rs10241771	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10257531	1.00[EUR][1000 genomes]
rs10269177	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12705758	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13238719	0.91[EUR][1000 genomes]
rs214841	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214842	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs214844	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214845	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs214846	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214847	0.96[EUR][1000 genomes]
rs214848	0.96[EUR][1000 genomes]
rs214849	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214850	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214851	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214853	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214854	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214855	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214856	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214857	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214858	1.00[CEU][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214859	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214860	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214861	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs214862	1.00[CEU][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs214863	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs214864	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214865	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214866	1.00[EUR][1000 genomes]
rs214867	1.00[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214868	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs214869	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214870	1.00[CEU][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214871	1.00[CEU][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214872	1.00[CEU][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214873	1.00[EUR][1000 genomes]
rs214874	1.00[EUR][1000 genomes]
rs214878	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214879	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214880	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs214881	1.00[CEU][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214882	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs214886	1.00[EUR][1000 genomes]
rs214887	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs214894	0.96[EUR][1000 genomes]
rs2160024	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2396302	0.83[EUR][1000 genomes]
rs28590134	1.00[EUR][1000 genomes]
rs37745	1.00[CEU][hapmap]
rs4236594	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4730474	0.91[EUR][1000 genomes]
rs57817514	1.00[EUR][1000 genomes]
rs57971786	0.96[EUR][1000 genomes]
rs58799975	1.00[EUR][1000 genomes]
rs59902560	0.91[EUR][1000 genomes]
rs60913915	1.00[EUR][1000 genomes]
rs6466372	0.83[EUR][1000 genomes]
rs6945175	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6964177	0.83[EUR][1000 genomes]
rs7783424	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs7790427	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7801913	0.83[EUR][1000 genomes]
rs7801960	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs7802954	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs7808895	0.91[EUR][1000 genomes]
rs996595	0.83[EUR][1000 genomes]
rs996597	1.00[CEU][hapmap]
rs9987043	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531434	chr7:110310931-110839892	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3506497	chr7:110484691-111091738	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3506498	chr7:110484750-111091689	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2758129	chr7:110523298-110787849	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2759554	chr7:110523298-110787849	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1031546	chr7:110549137-110978256	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv817555	chr7:110564801-110990927	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1033286	chr7:110588021-110990928	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv539063	chr7:110588021-110990928	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv931978	chr7:110607590-111092490	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1025987	chr7:110609568-111258501	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	esv2830178	chr7:110645431-110778571	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1024477	chr7:110660006-110944477	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv608154	chr7:110688993-110945501	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv608155	chr7:110722482-111351512	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv1035119	chr7:110745019-111258501	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110734800-110761800	Weak transcription	Left Ventricle	heart
2	chr7:110734800-110762800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr7:110737400-110767000	Weak transcription	Brain Angular Gyrus	brain
4	chr7:110739200-110763000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:110744400-110753600	Weak transcription	NHEK	skin
6	chr7:110745000-110754400	Weak transcription	Fetal Brain Male	brain
7	chr7:110745000-110762800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:110745200-110759800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:110745600-110770000	Weak transcription	Brain Anterior Caudate	brain
10	chr7:110746400-110760000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:110747400-110753600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:110747800-110758000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr7:110748400-110753600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:110748400-110762400	Weak transcription	Adipose Nuclei	Adipose
15	chr7:110748400-110763400	Weak transcription	Fetal Brain Female	brain
16	chr7:110749200-110766400	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:110749400-110754000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:110750000-110759800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr7:110750200-110753600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr7:110752200-110753600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:110752200-110754400	Enhancers	HSMM	muscle
22	chr7:110752200-110755400	Genic enhancers	Primary T cells from cord blood	blood
23	chr7:110752400-110753600	Enhancers	A549	lung
24	chr7:110752400-110753800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr7:110752400-110754000	Enhancers	Fetal Lung	lung
26	chr7:110752400-110754000	Enhancers	HUVEC	blood vessel
27	chr7:110752400-110754200	Enhancers	NHLF	lung
28	chr7:110752400-110754400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:110752400-110754400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:110752400-110754400	Enhancers	Osteobl	bone
31	chr7:110752400-110754600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:110752400-110754600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr7:110752400-110754600	Enhancers	Hela-S3	cervix
34	chr7:110752400-110754600	Enhancers	NH-A	brain
35	chr7:110752400-110758400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:110752800-110754000	Enhancers	Brain Substantia Nigra	brain
37	chr7:110752800-110754000	Enhancers	Colon Smooth Muscle	Colon
38	chr7:110752800-110763800	Weak transcription	Aorta	Aorta
39	chr7:110753000-110754200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:110753000-110754200	Weak transcription	HSMMtube	muscle
41	chr7:110753000-110754400	Weak transcription	NHDF-Ad	bronchial
42	chr7:110753000-110754600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:110753000-110778000	Weak transcription	Ovary	ovary
44	chr7:110753200-110753800	Enhancers	Brain Germinal Matrix	brain
45	chr7:110753200-110754000	Enhancers	Fetal Heart	heart
46	chr7:110753200-110754600	Enhancers	GM12878-XiMat	blood
47	chr7:110753400-110754200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:110753400-110754200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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