Variant report

Variant	rs4974645
Chromosome Location	chr4:1185802-1185803
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:1180737..1182546-chr4:1185790..1187373,2	K562	blood:
2	chr4:1185501..1187466-chr4:1194347..1197151,2	MCF-7	breast:
3	chr4:1184524..1188288-chr4:1189754..1192117,3	MCF-7	breast:
4	chr4:1184981..1187238-chr4:1195672..1197196,2	MCF-7	breast:
5	chr4:1184548..1187736-chr4:1238018..1240467,3	MCF-7	breast:
6	chr4:1185381..1187525-chr4:1340358..1342125,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163945	Chromatin interaction
ENSG00000159674	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10011708	1.00[TSI][hapmap]
rs10013662	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs11932230	1.00[EUR][1000 genomes]
rs1250087	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1250104	1.00[TSI][hapmap]
rs1250127	1.00[EUR][1000 genomes]
rs1272043	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs1481168	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs1680077	1.00[EUR][1000 genomes]
rs1732105	1.00[JPT][hapmap]
rs2127909	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28750743	0.89[ASW][hapmap];1.00[MEX][hapmap]
rs4246689	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4974567	1.00[ASW][hapmap];1.00[TSI][hapmap]
rs4974626	1.00[EUR][1000 genomes]
rs4974635	0.80[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57106389	1.00[EUR][1000 genomes]
rs58168130	1.00[EUR][1000 genomes]
rs61053739	1.00[EUR][1000 genomes]
rs6818213	1.00[MEX][hapmap]
rs6835204	1.00[MEX][hapmap]
rs6836809	1.00[ASW][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6836952	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6856793	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7659524	1.00[EUR][1000 genomes]
rs7676912	1.00[ASW][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900031	1.00[EUR][1000 genomes]
rs922697	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1009619	chr4:901897-1215657	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS 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 lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv1003876	chr4:927509-1191316	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1000381	chr4:927509-1198766	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv3339080	chr4:970630-1546223	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
7	nsv829835	chr4:1097586-1304239	Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv878328	chr4:1141573-1990425	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
9	nsv878329	chr4:1147407-1254930	Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
10	nsv878330	chr4:1147407-1523930	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	nsv593276	chr4:1159680-1227469	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv461151	chr4:1159680-1236840	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	nsv593277	chr4:1159680-1236840	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv878331	chr4:1159680-1254930	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
15	nsv461152	chr4:1159680-1415698	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
16	nsv593278	chr4:1159680-1415698	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
17	nsv461153	chr4:1174861-1254930	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
18	nsv593279	chr4:1174861-1254930	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
19	nsv461154	chr4:1179213-1254930	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
20	nsv593280	chr4:1179213-1254930	Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
21	nsv878332	chr4:1179213-1254930	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1178400-1189600	Weak transcription	Dnd41	blood
2	chr4:1180400-1187000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr4:1180800-1194000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr4:1181200-1193400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr4:1181200-1193600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr4:1181600-1190000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr4:1181600-1190000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:1181600-1193600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr4:1182600-1190200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr4:1184200-1186000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:1184200-1186200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:1184400-1194000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:1185000-1186400	Enhancers	Colon Smooth Muscle	Colon
14	chr4:1185000-1204200	Enhancers	Fetal Muscle Leg	muscle
15	chr4:1185200-1186200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:1185200-1186200	Enhancers	Fetal Heart	heart
17	chr4:1185200-1186200	Enhancers	NHLF	lung
18	chr4:1185200-1186600	Enhancers	Adipose Nuclei	Adipose
19	chr4:1185200-1186600	Enhancers	Colonic Mucosa	Colon
20	chr4:1185200-1187200	Enhancers	Esophagus	oesophagus
21	chr4:1185200-1187200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr4:1185200-1188000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr4:1185200-1188000	Enhancers	Stomach Mucosa	stomach
24	chr4:1185200-1188200	Enhancers	Fetal Muscle Trunk	muscle
25	chr4:1185200-1188400	Enhancers	Ovary	ovary
26	chr4:1185200-1189600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:1185200-1190000	Enhancers	Fetal Stomach	stomach
28	chr4:1185200-1190400	Bivalent Enhancer	Placenta	Placenta
29	chr4:1185400-1186200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:1185400-1186200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:1185400-1186200	Enhancers	Fetal Lung	lung
32	chr4:1185400-1186200	Enhancers	Hela-S3	cervix
33	chr4:1185400-1186400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr4:1185400-1186400	Enhancers	Brain Substantia Nigra	brain
35	chr4:1185400-1186400	Enhancers	Duodenum Mucosa	Duodenum
36	chr4:1185400-1187200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:1185400-1187200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:1185400-1187200	Enhancers	Brain Germinal Matrix	brain
39	chr4:1185400-1187200	Enhancers	Psoas Muscle	Psoas
40	chr4:1185400-1187400	Enhancers	Gastric	stomach
41	chr4:1185400-1187800	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr4:1185400-1187800	Enhancers	Spleen	Spleen
43	chr4:1185400-1188000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr4:1185400-1188200	Enhancers	Pancreas	Pancrea
45	chr4:1185400-1188200	Enhancers	Right Atrium	heart
46	chr4:1185400-1188400	Enhancers	Liver	Liver
47	chr4:1185400-1188400	Enhancers	Fetal Intestine Small	intestine
48	chr4:1185400-1188400	Enhancers	Left Ventricle	heart
49	chr4:1185400-1188400	Enhancers	Lung	lung
50	chr4:1185400-1188600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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