Variant report

Variant	rs11587971
Chromosome Location	chr1:225937618-225937619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225936802..225939434-chr1:225952495..225954139,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11588772	0.85[EUR][1000 genomes]
rs12077115	0.90[TSI][hapmap]
rs17570271	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4653430	0.99[ASN][1000 genomes]
rs4653664	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4653665	0.84[EUR][1000 genomes]
rs72753099	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7525768	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers 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 miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225925400-225938200	Weak transcription	Spleen	Spleen
2	chr1:225925800-225938000	Weak transcription	Lung	lung
3	chr1:225932800-225938000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:225934600-225938600	Weak transcription	Gastric	stomach
5	chr1:225934800-225938000	Weak transcription	Ovary	ovary
6	chr1:225934800-225938200	Weak transcription	Psoas Muscle	Psoas
7	chr1:225934800-225938400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:225934800-225938800	Weak transcription	Fetal Kidney	kidney
9	chr1:225934800-225939400	Weak transcription	Fetal Brain Female	brain
10	chr1:225934800-225943200	Weak transcription	Brain Angular Gyrus	brain
11	chr1:225935000-225938000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:225935000-225938000	Weak transcription	Placenta	Placenta
13	chr1:225935000-225938000	Weak transcription	HSMM	muscle
14	chr1:225935000-225938200	Weak transcription	Small Intestine	intestine
15	chr1:225935000-225938800	Weak transcription	Brain Germinal Matrix	brain
16	chr1:225935000-225941000	Weak transcription	Hela-S3	cervix
17	chr1:225935000-225949600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:225935200-225938000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:225935200-225938000	Weak transcription	Right Ventricle	heart
20	chr1:225935200-225942800	Weak transcription	Fetal Intestine Large	intestine
21	chr1:225935600-225937800	Weak transcription	Fetal Stomach	stomach
22	chr1:225935600-225938000	Weak transcription	Right Atrium	heart
23	chr1:225935600-225938200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:225935600-225938800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:225935600-225939200	Weak transcription	Stomach Mucosa	stomach
26	chr1:225935600-225941000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:225935600-225942600	Weak transcription	Fetal Thymus	thymus
28	chr1:225935600-225942600	Weak transcription	Pancreas	Pancrea
29	chr1:225935800-225938000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:225935800-225938000	Weak transcription	Left Ventricle	heart
31	chr1:225935800-225938600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:225935800-225942800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr1:225936000-225938800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:225936000-225939600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:225936000-225939600	Weak transcription	Fetal Brain Male	brain
36	chr1:225936000-225942800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:225936000-225942800	Weak transcription	A549	lung
38	chr1:225936200-225943400	Weak transcription	Esophagus	oesophagus
39	chr1:225936400-225938000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr1:225936600-225937800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:225936600-225938000	Weak transcription	Adipose Nuclei	Adipose
42	chr1:225936600-225938000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr1:225936600-225938200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr1:225936600-225938200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:225936600-225938800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:225936800-225938200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:225937400-225938400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:225937400-225938400	Enhancers	HepG2	liver
49	chr1:225937600-225937800	Enhancers	Colon Smooth Muscle	Colon
50	chr1:225937600-225938200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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