Variant report

Variant	rs6431310
Chromosome Location	chr2:234243322-234243323
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234216148..234218067-chr2:234242398..234244264,2	MCF-7	breast:
2	chr2:234242282..234244298-chr2:234262922..234265541,2	MCF-7	breast:
3	chr2:234242293..234245038-chr2:234245423..234247780,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130561	Chromatin interaction
ENSG00000077044	Chromatin interaction
ENSG00000243637	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10168355	0.86[ASN][1000 genomes]
rs13028996	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2241873	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2241874	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3792093	0.88[ASN][1000 genomes]
rs3792098	0.86[ASN][1000 genomes]
rs6725503	0.86[ASN][1000 genomes]
rs6734243	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6742218	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6756706	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584699	chr2:234182240-234255547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1002075	chr2:234225979-234277508	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv460135	chr2:234242347-234288048	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv584701	chr2:234242347-234288048	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234223600-234245400	Weak transcription	Pancreas	Pancrea
2	chr2:234237400-234249800	Enhancers	Primary B cells from peripheral blood	blood
3	chr2:234237800-234244000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:234238400-234244600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:234238800-234243600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr2:234238800-234246600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:234240200-234244000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:234240200-234244400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:234240200-234245400	Weak transcription	Colonic Mucosa	Colon
10	chr2:234240400-234244600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr2:234240600-234244200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:234240600-234244800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr2:234240800-234243600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:234240800-234244200	Enhancers	Primary T cells from cord blood	blood
15	chr2:234240800-234244600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:234240800-234244600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:234240800-234244800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:234240800-234246600	Weak transcription	K562	blood
19	chr2:234241000-234244600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr2:234241000-234245400	Weak transcription	Fetal Intestine Small	intestine
21	chr2:234241000-234249600	Enhancers	Primary B cells from cord blood	blood
22	chr2:234241200-234243800	Weak transcription	GM12878-XiMat	blood
23	chr2:234241800-234243400	Enhancers	Fetal Muscle Trunk	muscle
24	chr2:234242400-234243400	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr2:234242400-234244200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr2:234242800-234243600	Weak transcription	Spleen	Spleen
27	chr2:234242800-234244600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:234243000-234244000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr2:234243000-234244000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:234243000-234244000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr2:234243000-234244600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr2:234243000-234247800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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