Variant report

Variant	rs7514888
Chromosome Location	chr1:174990905-174990906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174975701..174977916-chr1:174990172..174992601,2	MCF-7	breast:
2	chr1:174966455..174979047-chr1:174985921..174994239,29	MCF-7	breast:
3	chr1:174967181..174971270-chr1:174989768..174994107,8	MCF-7	breast:
4	chr1:174989148..174990939-chr1:174991029..174993709,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116161	Chromatin interaction
ENSG00000120333	Chromatin interaction
ENSG00000206659	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1046439	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1801791	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1978053	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1984418	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2105949	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2187939	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2285208	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2285210	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2301507	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35996757	0.88[ASN][1000 genomes]
rs6425309	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6425310	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6669560	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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	nsv947512	chr1:174984818-175000909	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174970000-174991800	Weak transcription	Stomach Mucosa	stomach
2	chr1:174971000-174991600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:174977400-174991800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:174977800-174991800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:174978200-174991400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:174983000-174991000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:174983000-174991600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:174983600-174991400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:174986200-174991400	Weak transcription	Psoas Muscle	Psoas
10	chr1:174987000-174991600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:174987000-174991600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:174987000-174991600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:174987000-174991600	Weak transcription	HSMM	muscle
14	chr1:174987000-174991800	Weak transcription	Esophagus	oesophagus
15	chr1:174987200-174991400	Weak transcription	Brain Substantia Nigra	brain
16	chr1:174987200-174991600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:174987200-174991800	Weak transcription	Aorta	Aorta
18	chr1:174987200-174991800	Weak transcription	Ovary	ovary
19	chr1:174987200-174991800	Weak transcription	Pancreas	Pancrea
20	chr1:174987200-174992000	Weak transcription	Small Intestine	intestine
21	chr1:174987400-174991600	Weak transcription	Fetal Intestine Small	intestine
22	chr1:174987600-174991000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr1:174987600-174991200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:174987600-174991400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:174987600-174991600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:174987600-174991600	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:174987600-174991600	Weak transcription	Fetal Lung	lung
28	chr1:174987600-174991600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:174987600-174991600	Weak transcription	NH-A	brain
30	chr1:174987600-174991800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:174987600-174991800	Weak transcription	Brain Germinal Matrix	brain
32	chr1:174987800-174991000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr1:174987800-174991000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr1:174987800-174991000	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:174987800-174991000	Weak transcription	HUVEC	blood vessel
36	chr1:174987800-174991400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:174987800-174991400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:174987800-174991400	Weak transcription	Adipose Nuclei	Adipose
39	chr1:174987800-174991400	Weak transcription	A549	lung
40	chr1:174987800-174991400	Weak transcription	NHLF	lung
41	chr1:174987800-174991600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr1:174987800-174991600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:174987800-174991600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:174987800-174991600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:174987800-174991600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:174987800-174991600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr1:174987800-174991600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:174987800-174991600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:174987800-174991600	Weak transcription	Brain Angular Gyrus	brain
50	chr1:174987800-174991600	Weak transcription	Brain Anterior Caudate	brain

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