Variant report

Variant	rs187006
Chromosome Location	chr4:148866588-148866589
allele	A/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	STAT3	chr4:148866582-148866692	MCF10A-Er-Src	breast:	n/a	chr4:148866656-148866667 chr4:148866643-148866654

Variant related genes	Relation type
ARHGAP10	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11934409	0.86[CHB][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap]
rs11937178	0.86[CHB][hapmap];0.84[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs11939997	0.84[ASN][1000 genomes]
rs11941546	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs11942547	0.82[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs11946732	0.86[CHB][hapmap]
rs13434578	0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs13435747	0.84[ASN][1000 genomes]
rs168367	1.00[CEU][hapmap]
rs17024143	0.84[ASN][1000 genomes]
rs182989	1.00[CEU][hapmap]
rs187005	1.00[CEU][hapmap]
rs2118033	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2118035	0.87[ASN][1000 genomes]
rs2164529	1.00[CEU][hapmap]
rs2164530	0.82[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2164531	0.81[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2358180	0.83[ASN][1000 genomes]
rs2358181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.97[MKK][hapmap];0.85[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2635256	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2635266	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2635267	0.82[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2635268	0.94[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.99[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2635269	1.00[CEU][hapmap]
rs4337713	0.83[ASN][1000 genomes]
rs4527453	1.00[CEU][hapmap]
rs4835469	0.81[CHB][hapmap]
rs55752555	0.88[ASN][1000 genomes]
rs67913037	0.84[ASN][1000 genomes]
rs6820696	1.00[CEU][hapmap]
rs72617450	0.88[ASN][1000 genomes]
rs7655265	0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7666206	0.84[ASN][1000 genomes]
rs7669783	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs7672161	0.82[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs975371	0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs975372	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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 miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1017904	chr4:148814133-148975348	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1024596	chr4:148830472-148886915	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148797400-148879600	Weak transcription	Gastric	stomach
2	chr4:148826600-148888200	Weak transcription	Fetal Thymus	thymus
3	chr4:148833600-148877400	Weak transcription	Small Intestine	intestine
4	chr4:148835000-148867200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:148835000-148869000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:148836600-148867000	Weak transcription	HMEC	breast
7	chr4:148847400-148877200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:148849200-148875600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr4:148850000-148876400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:148850200-148890800	Weak transcription	HUVEC	blood vessel
11	chr4:148854800-148866800	Weak transcription	NHEK	skin
12	chr4:148855400-148868600	Weak transcription	Fetal Intestine Small	intestine
13	chr4:148855400-148884800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:148856400-148889000	Weak transcription	Placenta	Placenta
15	chr4:148859000-148867000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:148859400-148898000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:148859800-148878600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:148860600-148869400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:148860800-148879200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:148861800-148867000	Weak transcription	Fetal Stomach	stomach
21	chr4:148861800-148868600	Weak transcription	Right Ventricle	heart
22	chr4:148861800-148878400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:148861800-148883000	Weak transcription	Lung	lung
24	chr4:148861800-148883000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:148861800-148884800	Weak transcription	Esophagus	oesophagus
26	chr4:148861800-148885400	Weak transcription	Pancreas	Pancrea
27	chr4:148861800-148890800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:148862000-148878400	Weak transcription	Fetal Heart	heart
29	chr4:148862000-148879200	Weak transcription	Psoas Muscle	Psoas
30	chr4:148862400-148867000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:148862600-148866800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:148862800-148867200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:148862800-148887800	Weak transcription	Fetal Intestine Large	intestine
34	chr4:148864200-148866600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:148864200-148867800	Weak transcription	NHDF-Ad	bronchial
36	chr4:148864200-148868200	Strong transcription	HSMM	muscle
37	chr4:148864200-148877000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr4:148864200-148887200	Weak transcription	NHLF	lung
39	chr4:148864400-148866800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:148864400-148873000	Weak transcription	Fetal Kidney	kidney
41	chr4:148864400-148896800	Weak transcription	Osteobl	bone
42	chr4:148864600-148867200	Weak transcription	NH-A	brain
43	chr4:148864600-148868200	Weak transcription	Colon Smooth Muscle	Colon
44	chr4:148864600-148876800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr4:148864800-148891200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr4:148865000-148879400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr4:148865400-148873400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:148865400-148879400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:148865600-148871400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr4:148865800-148866600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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