Variant report

Variant	rs57512007
Chromosome Location	chr1:174870738-174870739
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174870016..174872677-chr1:174967826..174970227,2	K562	blood:
2	chr1:174857903..174859403-chr1:174868929..174871590,2	K562	blood:
3	chr1:174869055..174871548-chr1:174876277..174878603,2	K562	blood:

Variant related genes	Relation type
ENSG00000116161	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10489331	1.00[EUR][1000 genomes]
rs10489334	1.00[EUR][1000 genomes]
rs10912852	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912862	1.00[EUR][1000 genomes]
rs10912866	1.00[EUR][1000 genomes]
rs10912869	1.00[EUR][1000 genomes]
rs12061403	1.00[EUR][1000 genomes]
rs12062145	1.00[EUR][1000 genomes]
rs12072529	1.00[EUR][1000 genomes]
rs12075140	1.00[EUR][1000 genomes]
rs12075193	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12089375	1.00[EUR][1000 genomes]
rs1329280	0.82[AMR][1000 genomes]
rs13376513	1.00[EUR][1000 genomes]
rs16847652	1.00[EUR][1000 genomes]
rs16847670	1.00[EUR][1000 genomes]
rs16847689	1.00[EUR][1000 genomes]
rs16847701	1.00[EUR][1000 genomes]
rs1894679	1.00[EUR][1000 genomes]
rs4650677	1.00[EUR][1000 genomes]
rs58503437	1.00[EUR][1000 genomes]
rs59073370	0.82[AMR][1000 genomes]
rs60283543	0.82[AMR][1000 genomes]
rs60411387	1.00[EUR][1000 genomes]
rs6425311	1.00[EUR][1000 genomes]
rs6689751	1.00[EUR][1000 genomes]
rs6696432	0.82[AMR][1000 genomes]
rs74128526	1.00[EUR][1000 genomes]
rs74128530	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174844800-174871600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:174844800-174874400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:174844800-174877400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:174846800-174874000	Weak transcription	Ovary	ovary
5	chr1:174847600-174874400	Weak transcription	Esophagus	oesophagus
6	chr1:174850200-174874800	Weak transcription	Fetal Stomach	stomach
7	chr1:174852000-174873400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:174852800-174874800	Weak transcription	Spleen	Spleen
9	chr1:174856800-174876400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:174857000-174870800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:174857000-174871200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:174858000-174871200	Weak transcription	Lung	lung
13	chr1:174859000-174874000	Weak transcription	Brain Angular Gyrus	brain
14	chr1:174859600-174873400	Weak transcription	K562	blood
15	chr1:174861400-174871200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr1:174861400-174876200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:174861400-174902400	Weak transcription	Left Ventricle	heart
18	chr1:174862800-174882400	Weak transcription	Fetal Lung	lung
19	chr1:174863200-174883200	Weak transcription	Small Intestine	intestine
20	chr1:174863400-174881400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:174863600-174873800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:174863600-174874200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:174863800-174876000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:174863800-174883000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr1:174864200-174882000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:174864600-174874000	Weak transcription	Aorta	Aorta
27	chr1:174866600-174871000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:174866800-174871400	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr1:174866800-174871400	Weak transcription	Gastric	stomach
30	chr1:174867200-174871000	Weak transcription	Pancreas	Pancrea
31	chr1:174867400-174871800	Genic enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:174868400-174871400	Weak transcription	Stomach Mucosa	stomach
33	chr1:174868400-174873400	Weak transcription	Fetal Intestine Large	intestine
34	chr1:174868600-174871200	Weak transcription	Liver	Liver
35	chr1:174868600-174872800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr1:174868800-174874800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr1:174869000-174875200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:174869200-174872000	Strong transcription	Primary B cells from cord blood	blood
39	chr1:174869600-174871200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:174869600-174874400	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:174869600-174877600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:174869800-174874000	Weak transcription	HSMMtube	muscle
43	chr1:174869800-174874600	Weak transcription	Primary T cells from cord blood	blood
44	chr1:174870000-174871800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:174870000-174874800	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:174870000-174877600	Weak transcription	Brain Anterior Caudate	brain
47	chr1:174870200-174872000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
48	chr1:174870200-174874000	Weak transcription	Right Atrium	heart
49	chr1:174870400-174872000	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr1:174870600-174870800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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