Variant report

Variant	rs9972204
Chromosome Location	chr14:55366887-55366888
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	chr14:55030801..55036234-chr14:55366700..55372024,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000020577	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10131563	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133661	0.87[AFR][1000 genomes]
rs10134429	0.87[AFR][1000 genomes]
rs10138594	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140092	1.00[AMR][1000 genomes]
rs10141456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10142436	1.00[AMR][1000 genomes]
rs10143699	1.00[AMR][1000 genomes]
rs10148995	1.00[AMR][1000 genomes]
rs10149080	0.84[AFR][1000 genomes]
rs10149945	1.00[AFR][1000 genomes]
rs11844799	0.87[AFR][1000 genomes]
rs11847085	1.00[AMR][1000 genomes]
rs12323345	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28411355	1.00[AMR][1000 genomes]
rs28413055	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28491418	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3358123	chr14:55359251-55378030	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:53 , 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	chr14:55349200-55367400	Weak transcription	Fetal Intestine Large	intestine
4	chr14:55349200-55367400	Weak transcription	Thymus	Thymus
5	chr14:55349400-55367800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr14:55349600-55367200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:55349600-55368000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:55354000-55367200	Weak transcription	Primary T cells from cord blood	blood
9	chr14:55356000-55368000	Weak transcription	Spleen	Spleen
10	chr14:55356400-55368000	Weak transcription	Small Intestine	intestine
11	chr14:55356600-55367800	Weak transcription	K562	blood
12	chr14:55358200-55367400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:55358600-55367200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr14:55359000-55367400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:55359400-55367400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:55359600-55367000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:55360400-55367200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr14:55360800-55367400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:55360800-55367800	Weak transcription	HMEC	breast
20	chr14:55362400-55367000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr14:55362400-55367200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:55362600-55367200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:55362600-55367200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:55362600-55367200	Weak transcription	NHEK	skin
25	chr14:55362600-55367400	Weak transcription	NH-A	brain
26	chr14:55362800-55367200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:55362800-55367400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr14:55362800-55367400	Weak transcription	HUVEC	blood vessel
29	chr14:55362800-55367800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:55362800-55368000	Weak transcription	Lung	lung
31	chr14:55363200-55367200	Weak transcription	Osteobl	bone
32	chr14:55363400-55367200	Weak transcription	Dnd41	blood
33	chr14:55365000-55367200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr14:55365400-55367200	Enhancers	GM12878-XiMat	blood
35	chr14:55365600-55367400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr14:55365600-55367400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr14:55365800-55367200	Enhancers	Primary T cells fromperipheralblood	blood
38	chr14:55365800-55367200	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr14:55365800-55367200	Enhancers	HepG2	liver
40	chr14:55365800-55367400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr14:55365800-55367400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:55366000-55367600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:55366200-55367200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:55366200-55367200	Enhancers	Liver	Liver
45	chr14:55366400-55367000	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr14:55366400-55367200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr14:55366400-55367400	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr14:55366400-55367600	Weak transcription	Fetal Intestine Small	intestine
49	chr14:55366400-55367600	Enhancers	Hela-S3	cervix
50	chr14:55366400-55367600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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