Variant report

Variant	rs9790586
Chromosome Location	chr4:6984009-6984010
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:6983338-6984644	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6974510..6976295-chr4:6983564..6986014,2	K562	blood:
2	chr4:6982427..6986274-chr4:6986915..6990126,4	MCF-7	breast:
3	chr4:6981170..6985080-chr4:6985804..6988739,4	MCF-7	breast:
4	chr4:6910526..6913373-chr4:6981785..6984718,4	MCF-7	breast:
5	chr4:6981814..6984780-chr4:6988944..6991170,2	MCF-7	breast:
6	chr4:6979161..6982457-chr4:6982771..6985556,3	MCF-7	breast:
7	chr4:6971277..6973521-chr4:6982588..6984524,2	K562	blood:

No data

Variant related genes	Relation type
TBC1D14	TF binding region
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10013211	0.82[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs10013696	0.84[ASN][1000 genomes]
rs10015163	0.85[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs10019900	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs10804990	0.92[CHD][hapmap];0.90[JPT][hapmap]
rs10937762	0.90[JPT][hapmap]
rs10937763	0.90[JPT][hapmap]
rs10937768	0.82[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs10937770	0.83[ASN][1000 genomes]
rs10937777	0.88[AMR][1000 genomes]
rs11723651	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11723719	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11728984	0.83[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11731639	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11732389	0.83[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap]
rs11732887	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11733522	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11736355	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11930747	0.83[EUR][1000 genomes]
rs12119	0.82[JPT][hapmap]
rs12499678	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13140943	0.81[ASN][1000 genomes]
rs13149280	0.80[ASN][1000 genomes]
rs13435015	0.85[JPT][hapmap]
rs17742611	0.81[JPT][hapmap]
rs2301820	0.81[JPT][hapmap]
rs34173965	0.85[ASN][1000 genomes]
rs3756255	0.94[CEU][hapmap]
rs3857170	0.86[JPT][hapmap]
rs3857172	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3857173	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3892145	0.80[JPT][hapmap];0.80[ASN][1000 genomes]
rs41516949	0.89[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap]
rs4261987	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4315786	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs4346651	0.94[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4432749	0.85[JPT][hapmap]
rs4484301	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs4608812	0.94[JPT][hapmap]
rs4689061	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4689558	0.90[JPT][hapmap]
rs4689562	0.95[JPT][hapmap]
rs4689572	0.82[JPT][hapmap]
rs58935653	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61488923	0.83[ASN][1000 genomes]
rs62292202	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6446552	0.89[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap]
rs6446553	0.89[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs6831368	0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6831590	0.82[ASN][1000 genomes]
rs6848114	0.87[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6849716	0.81[ASN][1000 genomes]
rs7664348	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7668673	0.81[JPT][hapmap]
rs7695050	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9291121	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs9291123	0.89[CHD][hapmap];0.95[JPT][hapmap]
rs9291124	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9999025	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6965400-6987800	Weak transcription	Small Intestine	intestine
2	chr4:6968000-6987600	Weak transcription	HSMM	muscle
3	chr4:6969800-6985200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:6969800-6986000	Weak transcription	Left Ventricle	heart
5	chr4:6970800-6985800	Weak transcription	Esophagus	oesophagus
6	chr4:6970800-6987800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:6971600-6986400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:6972000-6986000	Weak transcription	Right Ventricle	heart
9	chr4:6972400-6985800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:6972400-6986000	Weak transcription	Ovary	ovary
11	chr4:6972800-6985800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:6973800-6985000	Weak transcription	Spleen	Spleen
13	chr4:6974000-6985400	Weak transcription	HepG2	liver
14	chr4:6974800-6985800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:6975200-6985600	Weak transcription	Fetal Intestine Small	intestine
16	chr4:6976200-6985200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:6976200-6985200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:6976200-6985200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:6976200-6985800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:6976200-6987800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:6976400-6985000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr4:6976400-6985600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:6976400-6985800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:6976400-6986000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:6976400-6986000	Weak transcription	Placenta	Placenta
26	chr4:6976400-6987800	Weak transcription	Fetal Thymus	thymus
27	chr4:6976600-6985000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr4:6976600-6985000	Weak transcription	Primary B cells from cord blood	blood
29	chr4:6976600-6985400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr4:6976600-6985400	Weak transcription	Brain Hippocampus Middle	brain
31	chr4:6976600-6985800	Weak transcription	Primary T cells from cord blood	blood
32	chr4:6976600-6985800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr4:6976600-6986000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:6976600-6986000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr4:6976600-6986000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:6976600-6986000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:6976600-6986400	Weak transcription	A549	lung
38	chr4:6976600-6987000	Weak transcription	Fetal Kidney	kidney
39	chr4:6976600-6987400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr4:6976600-6987600	Weak transcription	Thymus	Thymus
41	chr4:6976800-6985600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr4:6976800-6986400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:6976800-6986600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:6977000-6985200	Weak transcription	Liver	Liver
45	chr4:6978600-6986600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr4:6981200-6986000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:6981200-6986400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr4:6981600-6985600	Weak transcription	Fetal Intestine Large	intestine
49	chr4:6982200-6987200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr4:6983200-6984200	Strong transcription	Monocytes-CD14+_RO01746	blood

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