Variant report

Variant	rs4693797
Chromosome Location	chr4:87903048-87903049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:87901681..87903384-chr4:87927694..87930144,3	MCF-7	breast:
2	chr4:87901956..87904801-chr4:87936057..87937824,2	K562	blood:

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10003332	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10008600	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10022960	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1374936	0.85[ASN][1000 genomes]
rs1374937	0.86[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs1584345	0.90[CHB][hapmap]
rs168161	0.95[ASN][1000 genomes]
rs17012291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[ASN][1000 genomes]
rs1972969	1.00[CHB][hapmap];0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2053772	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2053774	0.93[ASN][1000 genomes]
rs2272777	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[ASN][1000 genomes]
rs2594276	0.83[CHB][hapmap]
rs2705617	0.85[ASN][1000 genomes]
rs340627	0.92[ASN][1000 genomes]
rs340628	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs340629	0.92[ASN][1000 genomes]
rs340631	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs340632	0.91[ASN][1000 genomes]
rs340635	0.95[ASN][1000 genomes]
rs340640	0.92[ASN][1000 genomes]
rs340644	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs340645	0.92[ASN][1000 genomes]
rs340646	0.87[ASN][1000 genomes]
rs340647	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs340649	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs340652	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4536897	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4693155	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4693799	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs58317309	0.88[ASN][1000 genomes]
rs6531943	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6531944	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6531945	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6531947	0.92[ASN][1000 genomes]
rs6815546	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6848056	0.87[ASN][1000 genomes]
rs6853011	0.95[ASN][1000 genomes]
rs73837575	0.92[ASN][1000 genomes]
rs7685248	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs895740	0.85[ASN][1000 genomes]
rs965824	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[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	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87872600-87926200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:87882600-87920200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:87882800-87912400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:87892200-87907000	Weak transcription	Brain Anterior Caudate	brain
5	chr4:87892400-87920600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:87892800-87909400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:87894400-87911000	Weak transcription	Pancreas	Pancrea
8	chr4:87894600-87904200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr4:87894600-87915600	Weak transcription	Lung	lung
10	chr4:87894600-87921000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:87895200-87909400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:87895400-87920000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:87896200-87916000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:87896200-87919200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr4:87896800-87918800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:87897600-87915600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:87898200-87915400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:87899000-87915400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:87899000-87915400	Weak transcription	Left Ventricle	heart
20	chr4:87899000-87920600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:87899000-87921200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:87899200-87903200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:87899200-87903400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:87899200-87905000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:87899200-87905400	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:87899200-87911000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:87899200-87913200	Weak transcription	Liver	Liver
28	chr4:87899200-87920800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:87899200-87922800	Weak transcription	Osteobl	bone
30	chr4:87899200-87925800	Weak transcription	Hela-S3	cervix
31	chr4:87899200-87926600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:87900000-87915600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:87900000-87924400	Weak transcription	NHEK	skin
34	chr4:87900200-87908200	Weak transcription	Stomach Mucosa	stomach
35	chr4:87900200-87920800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:87900800-87903800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr4:87901000-87913000	Weak transcription	Fetal Intestine Large	intestine
38	chr4:87901200-87913200	Weak transcription	HepG2	liver
39	chr4:87902200-87904000	Enhancers	Fetal Thymus	thymus
40	chr4:87902200-87904400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr4:87902400-87903400	Genic enhancers	Dnd41	blood
42	chr4:87902400-87903600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:87902400-87904400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr4:87902600-87903200	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr4:87902600-87903400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr4:87902600-87903800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr4:87902600-87903800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:87902600-87903800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:87902600-87904200	Enhancers	Primary hematopoietic stem cells	blood
50	chr4:87902600-87904200	Enhancers	Rectal Mucosa Donor 31	rectum

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