Variant report

Variant	rs2254350
Chromosome Location	chr4:175434801-175434802
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:175429876..175431764-chr4:175434191..175436356,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs17060612	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2247362	1.00[EUR][1000 genomes]
rs2251807	1.00[EUR][1000 genomes]
rs2253170	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2253270	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2254225	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255737	1.00[EUR][1000 genomes]
rs2555630	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2555631	1.00[CEU][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2555661	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2555668	1.00[EUR][1000 genomes]
rs2612657	1.00[EUR][1000 genomes]
rs2612660	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2612661	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2612678	1.00[EUR][1000 genomes]
rs2612688	1.00[EUR][1000 genomes]
rs45509091	1.00[EUR][1000 genomes]
rs45525332	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45527531	1.00[EUR][1000 genomes]
rs45557833	1.00[EUR][1000 genomes]
rs45604244	1.00[EUR][1000 genomes]
rs56812046	1.00[EUR][1000 genomes]
rs6825010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72997311	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	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv525487	chr4:175400104-175470867	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv880289	chr4:175412975-175437117	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv880970	chr4:175434394-175444006	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175396000-175442800	Weak transcription	Esophagus	oesophagus
2	chr4:175410000-175440800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:175410800-175440000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr4:175418000-175438600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:175418600-175437800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr4:175418800-175435600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:175419200-175438600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:175420600-175441000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:175421000-175439200	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:175427400-175438400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:175427400-175440600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:175427400-175443000	Weak transcription	Lung	lung
13	chr4:175427600-175441800	Weak transcription	Fetal Thymus	thymus
14	chr4:175427800-175435800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:175428000-175439400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:175429200-175436200	Weak transcription	Stomach Mucosa	stomach
17	chr4:175429400-175435000	Weak transcription	Primary T cells from cord blood	blood
18	chr4:175429400-175441200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:175429400-175442600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:175431000-175442400	Weak transcription	Fetal Intestine Large	intestine
21	chr4:175432800-175441600	Weak transcription	Placenta	Placenta
22	chr4:175433200-175442600	Weak transcription	Fetal Intestine Small	intestine
23	chr4:175434000-175435800	Enhancers	Liver	Liver
24	chr4:175434600-175437200	Weak transcription	A549	lung

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