Variant report

Variant	rs7547692
Chromosome Location	chr1:153880176-153880177
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	chr1:153878654..153880951-chr1:153891156..153893030,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2500222	1.00[EUR][1000 genomes]
rs35102232	1.00[EUR][1000 genomes]
rs55650526	1.00[EUR][1000 genomes]
rs59651124	1.00[EUR][1000 genomes]
rs6665473	1.00[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	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv531892	chr1:153671910-153954090	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153825800-153887200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:153837000-153893000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:153846200-153894200	Weak transcription	Esophagus	oesophagus
4	chr1:153853800-153892200	Weak transcription	Pancreas	Pancrea
5	chr1:153853800-153893400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:153854000-153892600	Weak transcription	Colonic Mucosa	Colon
7	chr1:153854400-153892400	Weak transcription	Aorta	Aorta
8	chr1:153854600-153892200	Weak transcription	HSMM	muscle
9	chr1:153855000-153886800	Weak transcription	Gastric	stomach
10	chr1:153855000-153886800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:153855000-153887200	Weak transcription	Ovary	ovary
12	chr1:153855000-153891800	Weak transcription	NHEK	skin
13	chr1:153855000-153892400	Weak transcription	NHLF	lung
14	chr1:153855000-153892800	Weak transcription	NH-A	brain
15	chr1:153855200-153880600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:153855400-153892000	Weak transcription	HMEC	breast
17	chr1:153855600-153892200	Weak transcription	Fetal Kidney	kidney
18	chr1:153856000-153890400	Weak transcription	Brain Angular Gyrus	brain
19	chr1:153856000-153891600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:153860000-153890400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:153861200-153891600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:153861200-153892400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:153861400-153890800	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:153862000-153884400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:153862600-153892000	Weak transcription	Small Intestine	intestine
26	chr1:153866200-153880600	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:153866400-153894000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:153866600-153891600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:153866800-153887000	Weak transcription	Left Ventricle	heart
30	chr1:153866800-153892200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:153866800-153892200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:153869600-153884600	Weak transcription	HepG2	liver
33	chr1:153869600-153888200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:153870000-153892400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:153870200-153890400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:153870400-153881600	Strong transcription	Fetal Intestine Small	intestine
37	chr1:153870600-153888000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:153870800-153892400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr1:153871400-153885800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:153871800-153890600	Weak transcription	Brain Germinal Matrix	brain
41	chr1:153872000-153886000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr1:153872000-153887400	Weak transcription	Lung	lung
43	chr1:153872000-153890800	Weak transcription	Fetal Brain Male	brain
44	chr1:153872000-153892400	Weak transcription	Placenta	Placenta
45	chr1:153872000-153892400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:153872200-153890200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:153872200-153892200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr1:153872200-153892400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:153872400-153891800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:153872400-153891800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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