Variant report

Variant	rs6753926
Chromosome Location	chr2:97298949-97298950
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:97270355..97272803-chr2:97296227..97299529,3	K562	blood:
2	chr2:97294069..97296283-chr2:97297649..97299924,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114982	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10177168	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676886	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11891926	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17634791	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2438712	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2579498	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2579501	0.82[EUR][1000 genomes]
rs4907200	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6576974	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576976	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576978	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741277	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584930	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS 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 target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97258200-97302800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:97261200-97301600	Strong transcription	Fetal Thymus	thymus
3	chr2:97285400-97302400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:97285800-97300400	Weak transcription	Right Ventricle	heart
5	chr2:97285800-97302800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:97288400-97301800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:97289000-97300800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:97289600-97301400	Strong transcription	Fetal Intestine Large	intestine
9	chr2:97291000-97302000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:97292200-97301400	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr2:97292200-97301800	Weak transcription	Stomach Mucosa	stomach
12	chr2:97292200-97302400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:97292200-97302400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:97292200-97302600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:97292400-97302200	Strong transcription	Fetal Muscle Leg	muscle
16	chr2:97292600-97299800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:97292600-97300600	Strong transcription	Brain Germinal Matrix	brain
18	chr2:97292600-97301000	Strong transcription	Primary B cells from peripheral blood	blood
19	chr2:97292600-97301400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr2:97292600-97301400	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr2:97292800-97300400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:97292800-97301200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:97292800-97302000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:97293000-97300600	Strong transcription	Thymus	Thymus
25	chr2:97293000-97301200	Strong transcription	Fetal Stomach	stomach
26	chr2:97293200-97299800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:97293200-97300600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:97293200-97301000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:97293400-97299400	Strong transcription	Adipose Nuclei	Adipose
30	chr2:97293400-97300400	Strong transcription	Primary T cells from cord blood	blood
31	chr2:97293400-97302000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:97293600-97300600	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:97293600-97300600	Strong transcription	K562	blood
34	chr2:97293600-97300800	Strong transcription	Primary hematopoietic stem cells	blood
35	chr2:97293600-97301200	Strong transcription	Primary B cells from cord blood	blood
36	chr2:97294200-97299800	Strong transcription	Duodenum Mucosa	Duodenum
37	chr2:97294200-97300200	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:97294200-97300400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:97294800-97300800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:97294800-97302800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:97295200-97299000	Strong transcription	NHEK	skin
42	chr2:97296000-97300000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
43	chr2:97296000-97300800	Strong transcription	Rectal Smooth Muscle	rectum
44	chr2:97296000-97302600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:97296400-97301000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:97296800-97299600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:97296800-97301000	Strong transcription	Fetal Intestine Small	intestine
48	chr2:97297000-97300200	Genic enhancers	Left Ventricle	heart
49	chr2:97297000-97300400	Weak transcription	NH-A	brain
50	chr2:97297000-97301000	Strong transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links