Variant report

Variant	rs2393997
Chromosome Location	chr6:27670697-27670698
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:27669358..27671049-chr6:27700076..27702911,2	K562	blood:
2	chr6:27670250..27673191-chr6:27723819..27726632,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10456356	1.00[ASN][1000 genomes]
rs12154137	1.00[ASN][1000 genomes]
rs12209038	1.00[ASN][1000 genomes]
rs12212404	1.00[ASN][1000 genomes]
rs12213302	1.00[ASN][1000 genomes]
rs16868094	1.00[CHB][hapmap]
rs17693963	1.00[CHB][hapmap]
rs4711160	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713119	0.87[EUR][1000 genomes]
rs645666	1.00[ASN][1000 genomes]
rs6930169	1.00[ASN][1000 genomes]
rs7748123	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1023673	chr6:27570731-27688782	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv437481	chr6:27655096-27683572	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv601204	chr6:27655564-27689502	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1023808	chr6:27656049-27674354	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv601205	chr6:27656255-27730064	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2393997	ZNF391	cis	Nerve Tibial	GTEx
rs2393997	ZNF391	cis	Artery Tibial	GTEx

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27662400-27678000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:27662400-27680000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:27662400-27680400	Weak transcription	Spleen	Spleen
4	chr6:27662400-27680600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:27662400-27684600	Weak transcription	Lung	lung
6	chr6:27662400-27685600	Weak transcription	Esophagus	oesophagus
7	chr6:27662600-27670800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr6:27662600-27673200	Weak transcription	Fetal Stomach	stomach
9	chr6:27662600-27678200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:27662600-27678600	Weak transcription	Primary B cells from cord blood	blood
11	chr6:27662600-27680600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:27662600-27680800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:27662600-27684000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:27662800-27670800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:27662800-27671000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:27662800-27671200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr6:27662800-27672400	Weak transcription	Fetal Intestine Small	intestine
18	chr6:27662800-27678400	Weak transcription	Fetal Lung	lung
19	chr6:27662800-27678400	Weak transcription	Thymus	Thymus
20	chr6:27662800-27678600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:27662800-27684000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr6:27662800-27684800	Weak transcription	Fetal Kidney	kidney
23	chr6:27662800-27688400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:27662800-27688600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:27662800-27689000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:27663000-27670800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:27663000-27674600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr6:27663000-27688600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr6:27663200-27670800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr6:27663200-27670800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:27663200-27671200	Weak transcription	Fetal Thymus	thymus
32	chr6:27663200-27673000	Weak transcription	GM12878-XiMat	blood
33	chr6:27663200-27674200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:27663200-27676400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:27663200-27678200	Weak transcription	Brain Germinal Matrix	brain
36	chr6:27663200-27678200	Weak transcription	Fetal Brain Female	brain
37	chr6:27663200-27680800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr6:27663200-27682400	Weak transcription	Pancreas	Pancrea
39	chr6:27663200-27683800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:27663200-27688400	Weak transcription	HMEC	breast
41	chr6:27663400-27670800	Weak transcription	Hela-S3	cervix
42	chr6:27663400-27678400	Weak transcription	Fetal Brain Male	brain
43	chr6:27663400-27678400	Weak transcription	K562	blood
44	chr6:27663400-27687800	Weak transcription	NHEK	skin
45	chr6:27664600-27684600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:27668200-27684400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr6:27668800-27673000	Strong transcription	Primary hematopoietic stem cells	blood
48	chr6:27668800-27673000	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr6:27668800-27680400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:27669200-27670800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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