Variant report

Variant	rs7687500
Chromosome Location	chr4:78854942-78854943
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78849261..78852545-chr4:78852890..78855940,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11932644	0.84[EUR][1000 genomes]
rs11935318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11941918	0.90[EUR][1000 genomes]
rs11944704	1.00[CEU][hapmap]
rs1354100	1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap]
rs17002830	0.90[EUR][1000 genomes]
rs17408624	1.00[CEU][hapmap]
rs17409255	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs17409708	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs17409820	0.90[EUR][1000 genomes]
rs17410182	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17416711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17416836	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17448771	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs17449827	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs17450307	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs17450474	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17450655	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1801350	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1801521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1915587	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs1915588	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs41437548	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs57408981	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58449376	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6810599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6812768	0.94[EUR][1000 genomes]
rs6815466	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6816113	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs6825764	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6850795	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6853446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7656101	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7657481	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs7657902	0.94[EUR][1000 genomes]
rs7673193	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7674271	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs7678283	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7699718	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879501	chr4:78647634-78866007	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2752050	chr4:78693311-78975321	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010714	chr4:78742505-78991030	Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv516836	chr4:78748977-78981919	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv594704	chr4:78748977-78981919	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv461562	chr4:78757015-78981919	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv461563	chr4:78757015-78981919	Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv594705	chr4:78757015-78981919	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1008217	chr4:78777531-78957311	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv537145	chr4:78777531-78957311	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78784800-78859800	Weak transcription	Esophagus	oesophagus
2	chr4:78785000-78874400	Weak transcription	Right Ventricle	heart
3	chr4:78802400-78858400	Weak transcription	Aorta	Aorta
4	chr4:78806000-78881000	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:78806600-78875600	Weak transcription	Colonic Mucosa	Colon
6	chr4:78809600-78865400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:78809600-78881200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:78814600-78874400	Weak transcription	Pancreas	Pancrea
9	chr4:78816400-78866400	Weak transcription	Fetal Thymus	thymus
10	chr4:78816400-78876000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr4:78816600-78875800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:78818800-78872800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:78821000-78866000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr4:78821400-78873200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:78830000-78866600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr4:78830400-78877000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:78831800-78865800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr4:78832000-78858000	Weak transcription	Fetal Stomach	stomach
19	chr4:78833600-78865400	Weak transcription	Fetal Kidney	kidney
20	chr4:78842200-78865600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr4:78842400-78865400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:78843800-78858000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:78843800-78858000	Weak transcription	Left Ventricle	heart
24	chr4:78843800-78865200	Weak transcription	Psoas Muscle	Psoas
25	chr4:78844200-78871400	Weak transcription	NHDF-Ad	bronchial
26	chr4:78845200-78856000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:78847400-78860200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:78847600-78865200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:78848000-78856400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:78848800-78869000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr4:78849400-78876600	Weak transcription	Colon Smooth Muscle	Colon
32	chr4:78849600-78871400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:78849600-78881000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr4:78849800-78858800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr4:78850200-78881000	Weak transcription	A549	lung
36	chr4:78851000-78857200	Weak transcription	Brain Angular Gyrus	brain
37	chr4:78851200-78855000	Strong transcription	Primary T cells from cord blood	blood
38	chr4:78851200-78856800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr4:78851200-78859600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:78851400-78856800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr4:78851600-78855400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr4:78852000-78858000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:78852000-78881200	Weak transcription	Lung	lung
44	chr4:78852200-78856400	Weak transcription	Fetal Intestine Small	intestine
45	chr4:78852400-78855000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
46	chr4:78852600-78878200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:78853000-78857000	Weak transcription	Spleen	Spleen
48	chr4:78853000-78865200	Weak transcription	GM12878-XiMat	blood
49	chr4:78853000-78865400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:78853000-78874200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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