Variant report

Variant	rs6576981
Chromosome Location	chr2:97394406-97394407
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	chr2:97393570..97396277-chr2:97404339..97406737,2	K562	blood:
2	chr2:97392309..97395070-chr2:97405237..97406918,2	K562	blood:

Variant related genes	Relation type
ENSG00000114988	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10203346	0.81[ASN][1000 genomes]
rs11889085	0.95[ASN][1000 genomes]
rs12172	0.83[ASN][1000 genomes]
rs1320146	0.83[ASN][1000 genomes]
rs13419073	0.83[ASN][1000 genomes]
rs17119562	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17119564	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119591	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17119598	0.83[ASN][1000 genomes]
rs2139406	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2276654	0.83[ASN][1000 genomes]
rs2280356	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2314399	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2872633	0.98[EUR][1000 genomes]
rs3731940	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3731941	0.88[ASN][1000 genomes]
rs56797569	1.00[ASN][1000 genomes]
rs56913233	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57582887	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58147284	0.83[ASN][1000 genomes]
rs59073958	0.90[EUR][1000 genomes]
rs59648446	0.86[EUR][1000 genomes]
rs61742095	0.98[EUR][1000 genomes]
rs61750875	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62152765	1.00[ASN][1000 genomes]
rs62152766	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152767	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152768	1.00[ASN][1000 genomes]
rs62152770	1.00[ASN][1000 genomes]
rs62152771	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152772	0.95[ASN][1000 genomes]
rs62152773	0.95[ASN][1000 genomes]
rs62152774	0.95[ASN][1000 genomes]
rs62152775	0.95[ASN][1000 genomes]
rs62152777	0.90[ASN][1000 genomes]
rs62152780	0.98[EUR][1000 genomes]
rs62152783	0.90[ASN][1000 genomes]
rs62152784	0.84[ASN][1000 genomes]
rs62152785	0.90[ASN][1000 genomes]
rs62152786	0.88[ASN][1000 genomes]
rs62152787	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152788	0.81[ASN][1000 genomes]
rs62152790	0.83[ASN][1000 genomes]
rs62152793	0.83[ASN][1000 genomes]
rs62152794	0.83[ASN][1000 genomes]
rs62152834	0.83[ASN][1000 genomes]
rs62152860	0.81[ASN][1000 genomes]
rs62156206	0.94[EUR][1000 genomes]
rs62156207	0.94[EUR][1000 genomes]
rs62156208	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156209	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156210	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156211	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156212	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156213	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156216	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156219	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156220	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156221	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156222	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156223	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156225	1.00[ASN][1000 genomes]
rs62156226	1.00[ASN][1000 genomes]
rs62156227	1.00[ASN][1000 genomes]
rs62156228	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156229	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62156230	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156231	1.00[ASN][1000 genomes]
rs62156232	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156233	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156234	1.00[ASN][1000 genomes]
rs6576986	0.83[ASN][1000 genomes]
rs6576987	0.83[ASN][1000 genomes]
rs6751132	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756482	0.90[ASN][1000 genomes]
rs6758151	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72809850	0.95[ASN][1000 genomes]
rs72811623	0.83[ASN][1000 genomes]
rs7568206	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580942	0.83[ASN][1000 genomes]
rs878064	0.98[ASN][1000 genomes]
rs9973492	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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
14	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
15	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97368400-97405000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:97370600-97398800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:97372400-97400000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:97373200-97399000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:97373400-97395000	Weak transcription	Small Intestine	intestine
6	chr2:97375600-97398600	Weak transcription	Psoas Muscle	Psoas
7	chr2:97376000-97404000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:97377600-97396200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:97377600-97398000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:97377600-97398800	Weak transcription	K562	blood
11	chr2:97377600-97399600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:97377800-97396000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:97377800-97396200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:97377800-97398800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:97378000-97395000	Weak transcription	NHEK	skin
16	chr2:97378000-97403600	Weak transcription	Stomach Mucosa	stomach
17	chr2:97378400-97395000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:97378800-97396000	Weak transcription	GM12878-XiMat	blood
19	chr2:97379000-97396000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:97379000-97399200	Weak transcription	Fetal Heart	heart
21	chr2:97379200-97396000	Weak transcription	Esophagus	oesophagus
22	chr2:97379800-97399200	Weak transcription	Fetal Brain Male	brain
23	chr2:97380200-97396200	Weak transcription	Aorta	Aorta
24	chr2:97380800-97396000	Weak transcription	Colonic Mucosa	Colon
25	chr2:97381000-97403800	Strong transcription	Fetal Muscle Leg	muscle
26	chr2:97381200-97404800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:97383000-97399200	Strong transcription	Fetal Intestine Small	intestine
28	chr2:97383000-97403800	Strong transcription	Fetal Stomach	stomach
29	chr2:97385400-97403400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:97385800-97403800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:97390000-97395200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:97390200-97395000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:97390200-97400800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:97390400-97404000	Strong transcription	Fetal Muscle Trunk	muscle
35	chr2:97390800-97403400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:97390800-97403600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:97391000-97398800	Strong transcription	Fetal Intestine Large	intestine
38	chr2:97391200-97403400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr2:97391400-97400800	Strong transcription	Liver	Liver
40	chr2:97391400-97403400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:97391600-97395000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:97391600-97395600	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:97391600-97403000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:97391600-97403200	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:97391600-97403400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:97391600-97403600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:97391600-97403600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:97391600-97403800	Strong transcription	Fetal Thymus	thymus
49	chr2:97391600-97404000	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:97392000-97394600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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