Variant report

Variant	rs6931339
Chromosome Location	chr6:34270834-34270835
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34204531..34206261-chr6:34268326..34273116,4	K562	blood:
2	chr6:34255342..34257076-chr6:34270066..34272272,2	K562	blood:
3	chr6:34261986..34267851-chr6:34269330..34272911,9	K562	blood:
4	chr6:34263488..34269053-chr6:34269608..34275567,7	K562	blood:
5	chr6:34269756..34272267-chr6:34359227..34360907,2	MCF-7	breast:
6	chr6:34266488..34268180-chr6:34270200..34273070,2	MCF-7	breast:
7	chr6:34213029..34216924-chr6:34269938..34275237,5	K562	blood:
8	chr6:34269899..34272547-chr6:34275624..34278152,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000186577	Chromatin interaction
ENSG00000137309	Chromatin interaction
ENSG00000272325	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12200221	1.00[AMR][1000 genomes]
rs58600226	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60933648	1.00[AMR][1000 genomes]
rs6912357	1.00[AMR][1000 genomes]
rs6918615	1.00[AMR][1000 genomes]
rs7739644	1.00[AMR][1000 genomes]
rs7740217	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7750807	1.00[AMR][1000 genomes]
rs7764155	1.00[AMR][1000 genomes]
rs7764521	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7769855	1.00[AMR][1000 genomes]
rs7771935	1.00[AMR][1000 genomes]
rs7773228	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7775790	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798756	chr6:34203406-34319041	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv1798835	chr6:34204183-34319041	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv1792088	chr6:34204285-34318837	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1793127	chr6:34204285-34319041	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	esv1794528	chr6:34267024-34308816	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34244400-34273400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr6:34251000-34283200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:34253600-34271200	Weak transcription	Stomach Mucosa	stomach
4	chr6:34260200-34272800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:34261400-34273400	Weak transcription	Fetal Kidney	kidney
6	chr6:34261400-34276000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:34261600-34273400	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:34261600-34276200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:34261800-34271200	Weak transcription	HUVEC	blood vessel
10	chr6:34261800-34273600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:34261800-34275200	Weak transcription	Aorta	Aorta
12	chr6:34261800-34330800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr6:34262000-34274000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:34262000-34276800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:34262000-34282600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr6:34262000-34282800	Weak transcription	Primary T cells from cord blood	blood
17	chr6:34262000-34283400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:34262000-34284600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:34262000-34286600	Weak transcription	Gastric	stomach
20	chr6:34262000-34289000	Weak transcription	Hela-S3	cervix
21	chr6:34262000-34292800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:34262200-34273400	Weak transcription	Fetal Brain Female	brain
23	chr6:34262200-34276000	Weak transcription	Pancreas	Pancrea
24	chr6:34262200-34295400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr6:34262200-34301200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:34262800-34272000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr6:34262800-34290800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:34263000-34273600	Weak transcription	Fetal Intestine Large	intestine
29	chr6:34263200-34273800	Weak transcription	Fetal Intestine Small	intestine
30	chr6:34263800-34273400	Weak transcription	Fetal Stomach	stomach
31	chr6:34263800-34274000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr6:34263800-34282800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:34263800-34288400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:34264000-34282400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr6:34264000-34299000	Weak transcription	Dnd41	blood
36	chr6:34264600-34282400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:34264600-34284400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:34265200-34273400	Weak transcription	HSMMtube	muscle
39	chr6:34265400-34271800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:34265400-34273600	Weak transcription	Fetal Brain Male	brain
41	chr6:34267400-34283400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:34268200-34274200	Weak transcription	Esophagus	oesophagus
43	chr6:34268400-34274800	Weak transcription	Placenta	Placenta
44	chr6:34268600-34271400	Weak transcription	HepG2	liver
45	chr6:34268600-34278400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr6:34268600-34283400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:34269400-34272000	Enhancers	Fetal Heart	heart
48	chr6:34269400-34273600	Weak transcription	Primary B cells from cord blood	blood
49	chr6:34269400-34275000	Weak transcription	Right Ventricle	heart
50	chr6:34269400-34282200	Weak transcription	Fetal Thymus	thymus

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