Variant report

Variant	rs3095337
Chromosome Location	chr6:30737591-30737592
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30735343..30739242-chr6:30745410..30750382,5	MCF-7	breast:
2	chr6:30735516..30738178-chr6:30794315..30796554,3	MCF-7	breast:
3	chr6:30710566..30712092-chr6:30736043..30738574,2	K562	blood:
4	chr6:30711510..30712566-chr6:30736765..30737864,4	Hela-S3	cervix:
5	chr6:30736125..30739794-chr6:30850488..30852740,4	MCF-7	breast:
6	chr6:30639159..30640838-chr6:30736824..30738928,2	MCF-7	breast:
7	chr6:30736036..30738964-chr6:30760194..30762277,2	K562	blood:
8	chr6:30735613..30737637-chr6:30772309..30773867,2	MCF-7	breast:
9	chr6:30735902..30738522-chr6:30790223..30792279,2	MCF-7	breast:
10	chr14:69261158..69261792-chr6:30737040..30737774,2	Hela-S3	cervix:
11	chr6:30735539..30738504-chr6:30880365..30881967,2	MCF-7	breast:
12	chr6:30736584..30738500-chr6:30812126..30813733,2	MCF-7	breast:
13	chr6:30735949..30738859-chr6:30853029..30855349,2	MCF-7	breast:
14	chr6:30614159..30616330-chr6:30736952..30738701,2	MCF-7	breast:
15	chr6:30732229..30734221-chr6:30735941..30738002,2	K562	blood:
16	chr6:30735347..30739906-chr6:30783605..30789456,10	MCF-7	breast:
17	chr12:22777659..22778205-chr6:30737224..30737736,2	Hela-S3	cervix:
18	chr6:30735402..30739247-chr6:30785239..30791444,10	MCF-7	breast:
19	chr1:935937..936767-chr6:30737030..30737643,2	Hela-S3	cervix:
20	chr6:30726903..30729816-chr6:30736090..30739671,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272273	Chromatin interaction
ENSG00000228022	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000185650	Chromatin interaction
ENSG00000257023	Chromatin interaction
ENSG00000204564	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000139163	Chromatin interaction
ENSG00000204560	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3129986	0.81[ASN][1000 genomes]
rs3131062	0.81[ASN][1000 genomes]
rs3131064	0.81[ASN][1000 genomes]
rs9468824	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
6	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription 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 target site	223 gene(s)	inside rSNPs	diseases
7	nsv884100	chr6:30693816-30751326	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
8	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
9	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
10	nsv870418	chr6:30713196-30755668	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv527226	chr6:30716719-30772378	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv884103	chr6:30729487-30755668	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3095337	HLA-C	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30726800-30739000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr6:30731000-30738800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:30734400-30738800	Enhancers	Fetal Thymus	thymus
4	chr6:30734800-30738200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr6:30734800-30747400	Weak transcription	Liver	Liver
6	chr6:30735000-30738400	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr6:30735000-30738600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr6:30735000-30738800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr6:30735400-30737600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:30735400-30738800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:30735400-30738800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:30735400-30739000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr6:30735400-30739200	Enhancers	Thymus	Thymus
14	chr6:30735600-30737600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:30735600-30738200	Enhancers	GM12878-XiMat	blood
16	chr6:30736000-30737600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:30736000-30737600	Enhancers	Small Intestine	intestine
18	chr6:30736000-30737600	Enhancers	Spleen	Spleen
19	chr6:30736000-30738000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:30736000-30738000	Enhancers	Brain Hippocampus Middle	brain
21	chr6:30736000-30738200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:30736000-30738200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:30736000-30738600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:30736000-30738800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr6:30736200-30738000	Enhancers	Esophagus	oesophagus
26	chr6:30736200-30738200	Enhancers	Fetal Stomach	stomach
27	chr6:30736400-30737600	Enhancers	Fetal Muscle Trunk	muscle
28	chr6:30736400-30737600	Enhancers	Left Ventricle	heart
29	chr6:30736400-30737600	Enhancers	Lung	lung
30	chr6:30736400-30737600	Enhancers	Right Atrium	heart
31	chr6:30736400-30737600	Enhancers	Right Ventricle	heart
32	chr6:30736400-30737800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr6:30736400-30737800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:30736400-30738000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:30736400-30738000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:30736400-30738000	Enhancers	Brain Anterior Caudate	brain
37	chr6:30736400-30738000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr6:30736400-30738000	Enhancers	Fetal Intestine Small	intestine
39	chr6:30736400-30738000	Flanking Active TSS	HepG2	liver
40	chr6:30736400-30738000	Flanking Active TSS	NHEK	skin
41	chr6:30736400-30738200	Enhancers	Primary B cells from cord blood	blood
42	chr6:30736400-30738200	Enhancers	Placenta	Placenta
43	chr6:30736400-30738200	Enhancers	Rectal Smooth Muscle	rectum
44	chr6:30736400-30738200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr6:30736400-30738200	Flanking Active TSS	Hela-S3	cervix
46	chr6:30736400-30738400	Enhancers	Primary hematopoietic stem cells	blood
47	chr6:30736400-30739000	Enhancers	NHDF-Ad	bronchial
48	chr6:30736600-30737600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr6:30736600-30737600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:30736600-30737600	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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