Variant report

Variant	rs7681841
Chromosome Location	chr4:175162649-175162650
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	chr4:175162287..175164616-chr4:175167133..175169493,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11555602	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11929798	1.00[JPT][hapmap]
rs11933187	1.00[JPT][hapmap]
rs11942947	1.00[JPT][hapmap]
rs13101580	1.00[JPT][hapmap]
rs14278	0.82[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17060409	0.82[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17060445	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332836	1.00[JPT][hapmap]
rs4695919	1.00[JPT][hapmap]
rs66565786	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67875138	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67936635	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67940320	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72702214	0.90[AMR][1000 genomes]
rs72702215	0.84[AMR][1000 genomes]
rs72702216	0.84[AMR][1000 genomes]
rs72702219	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72702220	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72702225	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72702227	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72702228	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72702230	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72702234	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702236	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702242	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702244	1.00[ASN][1000 genomes]
rs72702246	1.00[ASN][1000 genomes]
rs72702249	1.00[ASN][1000 genomes]
rs72702250	1.00[ASN][1000 genomes]
rs72702258	1.00[ASN][1000 genomes]
rs73009476	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7656298	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7664501	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7692518	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7697587	0.82[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv881449	chr4:174984230-175225452	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175147000-175163000	Weak transcription	Fetal Stomach	stomach
2	chr4:175147600-175195200	Weak transcription	Psoas Muscle	Psoas
3	chr4:175151000-175163200	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:175151400-175192800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:175151800-175169400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr4:175151800-175181600	Weak transcription	Brain Angular Gyrus	brain
7	chr4:175152000-175165400	Weak transcription	NHDF-Ad	bronchial
8	chr4:175152600-175169400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:175152600-175176400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:175153000-175174200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:175153200-175169000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:175153200-175174600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:175153200-175184000	Weak transcription	Lung	lung
14	chr4:175153400-175191600	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:175154200-175204000	Weak transcription	Aorta	Aorta
16	chr4:175154200-175204200	Weak transcription	Esophagus	oesophagus
17	chr4:175154400-175186200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:175154400-175202400	Weak transcription	Gastric	stomach
19	chr4:175155400-175166800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr4:175155400-175185000	Weak transcription	Spleen	Spleen
21	chr4:175155600-175177000	Weak transcription	Fetal Kidney	kidney
22	chr4:175155600-175178200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:175155800-175186600	Weak transcription	Fetal Brain Female	brain
24	chr4:175156200-175162800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:175156200-175169600	Weak transcription	HSMMtube	muscle
26	chr4:175156200-175174400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr4:175156200-175174400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:175156600-175165000	Weak transcription	HSMM	muscle
29	chr4:175156600-175181600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:175156800-175165400	Weak transcription	HMEC	breast
31	chr4:175156800-175177000	Weak transcription	Brain Substantia Nigra	brain
32	chr4:175156800-175183400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:175157000-175162800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr4:175157000-175179600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr4:175157000-175181400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr4:175157000-175184000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr4:175158200-175162800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr4:175158200-175163000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr4:175158600-175164000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr4:175158800-175165600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:175158800-175165600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:175158800-175176200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr4:175158800-175178600	Weak transcription	Left Ventricle	heart
44	chr4:175158800-175202000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:175159000-175177000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr4:175159000-175177000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr4:175159000-175178600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:175159000-175178600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr4:175159000-175180400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:175159000-175184000	Weak transcription	Ovary	ovary

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