Variant report

Variant	rs7147286
Chromosome Location	chr14:55358665-55358666
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	chr14:55032510..55035314-chr14:55358663..55360584,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000020577	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10131232	0.87[YRI][hapmap]
rs10133650	0.91[YRI][hapmap]
rs10133662	0.86[YRI][hapmap]
rs10136972	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10137071	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1107960	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11158026	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17128120	0.84[CEU][hapmap]
rs2149482	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2183081	0.88[CEU][hapmap];0.91[YRI][hapmap]
rs2878172	0.96[YRI][hapmap]
rs3759665	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3783640	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs3783642	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56164809	0.80[EUR][1000 genomes]
rs7144602	0.87[YRI][hapmap]
rs7146285	0.92[CEU][hapmap]
rs7153937	0.80[CEU][hapmap]
rs73280573	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8007201	0.91[YRI][hapmap]
rs8007267	0.84[YRI][hapmap]
rs8012152	0.92[CEU][hapmap]
rs8019824	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8023187	0.96[YRI][hapmap];0.88[AFR][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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
2	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55345400-55368200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:55348400-55368200	Weak transcription	Gastric	stomach
3	chr14:55349000-55366400	Weak transcription	Hela-S3	cervix
4	chr14:55349200-55367400	Weak transcription	Fetal Intestine Large	intestine
5	chr14:55349200-55367400	Weak transcription	Thymus	Thymus
6	chr14:55349400-55367800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr14:55349600-55367200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:55349600-55368000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:55350000-55366400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr14:55353600-55365800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr14:55354000-55367200	Weak transcription	Primary T cells from cord blood	blood
12	chr14:55355200-55360400	Weak transcription	HMEC	breast
13	chr14:55355200-55362000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:55355600-55359000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr14:55355600-55359400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:55355600-55360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:55355800-55359800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:55356000-55362000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:55356000-55362000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr14:55356000-55362000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:55356000-55362600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:55356000-55368000	Weak transcription	Spleen	Spleen
23	chr14:55356400-55362200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:55356400-55362400	Weak transcription	Lung	lung
25	chr14:55356400-55365600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr14:55356400-55368000	Weak transcription	Small Intestine	intestine
27	chr14:55356600-55367800	Weak transcription	K562	blood
28	chr14:55356800-55360000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr14:55356800-55360000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr14:55356800-55360200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:55356800-55364200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr14:55356800-55365400	Weak transcription	Fetal Intestine Small	intestine
33	chr14:55357000-55361800	Weak transcription	NHEK	skin
34	chr14:55357200-55359000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr14:55357400-55361000	Weak transcription	HepG2	liver
36	chr14:55357600-55362200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr14:55358000-55360000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr14:55358200-55359200	Enhancers	Liver	Liver
39	chr14:55358200-55367400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:55358400-55358800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr14:55358400-55358800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr14:55358400-55358800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr14:55358400-55358800	Enhancers	GM12878-XiMat	blood
44	chr14:55358400-55359000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr14:55358400-55359000	Enhancers	H9 Cell Line	embryonic stem cell
46	chr14:55358400-55359000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr14:55358400-55359000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr14:55358400-55359000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr14:55358400-55359000	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr14:55358400-55359200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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