Variant report

Variant	rs4650725
Chromosome Location	chr1:175156808-175156809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:175156754..175158561-chr1:175195643..175197597,2	MCF-7	breast:
2	chr1:175153553..175155422-chr1:175156636..175159440,2	K562	blood:
3	chr1:175153353..175155053-chr1:175156377..175159440,3	K562	blood:
4	chr1:175154624..175159314-chr1:175159716..175163217,5	K562	blood:

Variant related genes	Relation type
ENSG00000235750	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1011808	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10732995	1.00[AFR][1000 genomes]
rs10753090	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10753092	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912897	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2142507	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2157587	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2861156	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4140637	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4390138	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4650703	1.00[AFR][1000 genomes]
rs4650707	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4651340	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4651342	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4651360	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425324	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6701249	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7533374	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556595	1.00[ASN][1000 genomes]
rs760487	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[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	nsv949473	chr1:175151666-175391741	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175129200-175159600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:175135000-175158400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:175136000-175157600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:175141000-175160200	Weak transcription	HUVEC	blood vessel
5	chr1:175141400-175158400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:175143000-175160800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:175143600-175158000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:175146000-175157800	Genic enhancers	Primary B cells from peripheral blood	blood
9	chr1:175146200-175159400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:175146200-175159800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:175146800-175160400	Weak transcription	Fetal Intestine Large	intestine
12	chr1:175147600-175160400	Weak transcription	Colonic Mucosa	Colon
13	chr1:175148200-175157400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr1:175148200-175157600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr1:175148200-175157800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:175148400-175159200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:175148800-175158000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr1:175151400-175157400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr1:175151400-175157400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr1:175152200-175159600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr1:175152400-175157200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:175153600-175159600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:175153800-175157200	Weak transcription	Fetal Thymus	thymus
24	chr1:175153800-175157600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr1:175153800-175158000	Weak transcription	Esophagus	oesophagus
26	chr1:175153800-175160400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr1:175154600-175158400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr1:175155200-175157200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:175155600-175157200	Enhancers	Psoas Muscle	Psoas
30	chr1:175155600-175157200	Strong transcription	Thymus	Thymus
31	chr1:175155600-175157600	Enhancers	Ovary	ovary
32	chr1:175155600-175157800	Genic enhancers	Primary T cells fromperipheralblood	blood
33	chr1:175155600-175158000	Strong transcription	Fetal Intestine Small	intestine
34	chr1:175155600-175158000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
35	chr1:175155600-175158000	Enhancers	K562	blood
36	chr1:175155600-175158200	Genic enhancers	Spleen	Spleen
37	chr1:175155600-175159200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:175155600-175159600	Genic enhancers	Placenta	Placenta
39	chr1:175155800-175157400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:175155800-175157400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:175155800-175158600	Enhancers	Right Atrium	heart
42	chr1:175155800-175160000	Enhancers	Pancreas	Pancrea
43	chr1:175155800-175161000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:175156000-175157000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:175156000-175157000	Enhancers	Gastric	stomach
46	chr1:175156000-175157400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:175156000-175157600	Genic enhancers	Primary T cells from cord blood	blood
48	chr1:175156000-175157800	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr1:175156000-175158800	Genic enhancers	Liver	Liver
50	chr1:175156000-175159600	Genic enhancers	Left Ventricle	heart

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