Variant report

Variant	rs1257014
Chromosome Location	chr2:97631882-97631883
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97631877..97635109-chr2:97650329..97653813,3	MCF-7	breast:
2	chr2:97533874..97536783-chr2:97631835..97634576,3	MCF-7	breast:
3	chr2:97526912..97529803-chr2:97630572..97632244,2	MCF-7	breast:
4	chr2:97480920..97483303-chr2:97630288..97633149,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168754	Chromatin interaction
ENSG00000168763	Chromatin interaction
ENSG00000168758	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11688134	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11688903	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1257010	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1257013	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1257021	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1257022	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1257026	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1257117	0.87[ASN][1000 genomes]
rs12995874	0.88[ASN][1000 genomes]
rs1796043	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1796048	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1796050	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4063952	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6730782	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9324210	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv582497	chr2:97569305-97715154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
12	nsv1001432	chr2:97591069-97671395	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	esv32727	chr2:97616488-97643975	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1257014	ANKRD36B	cis	Thyroid	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97620800-97643600	Weak transcription	Right Atrium	heart
2	chr2:97625600-97634200	Enhancers	Primary T cells fromperipheralblood	blood
3	chr2:97626200-97635800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:97626800-97633000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:97628800-97632200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:97629200-97633400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr2:97629200-97634200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:97629400-97632200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr2:97629400-97633000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:97629400-97633400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr2:97629400-97633600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr2:97629600-97633200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:97629800-97632200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:97630600-97635600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:97630600-97635600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:97630600-97635600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:97630600-97635800	Weak transcription	Colonic Mucosa	Colon
18	chr2:97630600-97635800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:97630600-97636000	Weak transcription	Fetal Intestine Small	intestine
20	chr2:97630800-97635600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:97630800-97636200	Weak transcription	Fetal Intestine Large	intestine
22	chr2:97631200-97632600	Weak transcription	Primary T cells from cord blood	blood
23	chr2:97631200-97633200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr2:97631200-97635400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:97631400-97632200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:97631400-97632600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:97631600-97635800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:97631800-97637000	Enhancers	Brain Substantia Nigra	brain
29	chr2:97631800-97637400	Enhancers	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links