Variant report

Variant	rs9491947
Chromosome Location	chr6:128761382-128761383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs9321117	1.00[YRI][hapmap]
rs9491934	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv830800	chr6:128710631-128878435	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128739800-128762600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:128740800-128777000	Weak transcription	Fetal Intestine Small	intestine
3	chr6:128753200-128777000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:128754800-128767000	Weak transcription	NHEK	skin
5	chr6:128756400-128776600	Weak transcription	Fetal Intestine Large	intestine
6	chr6:128758200-128763600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:128758600-128763800	Weak transcription	Stomach Mucosa	stomach
8	chr6:128758800-128766600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:128759200-128763000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:128759400-128761400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:128759400-128761400	Enhancers	Thymus	Thymus
12	chr6:128759400-128765000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:128759600-128762200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:128759600-128763800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr6:128759800-128764400	Weak transcription	Gastric	stomach
16	chr6:128759800-128765000	Weak transcription	Pancreas	Pancrea
17	chr6:128759800-128765400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:128759800-128767200	Weak transcription	HMEC	breast
19	chr6:128759800-128767400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:128759800-128786800	Weak transcription	Left Ventricle	heart
21	chr6:128760000-128762000	Weak transcription	Ovary	ovary
22	chr6:128760000-128762400	Weak transcription	Fetal Stomach	stomach
23	chr6:128760000-128764400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr6:128760000-128765600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr6:128760000-128766800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:128760000-128767000	Weak transcription	Fetal Brain Female	brain
27	chr6:128760200-128765000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:128760200-128769800	Weak transcription	Brain Angular Gyrus	brain
29	chr6:128760400-128762400	Weak transcription	Brain Hippocampus Middle	brain
30	chr6:128760600-128762200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr6:128760800-128761400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:128760800-128761800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr6:128760800-128765600	Weak transcription	Colon Smooth Muscle	Colon
34	chr6:128760800-128767400	Weak transcription	Brain Anterior Caudate	brain
35	chr6:128761000-128761400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:128761000-128761400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr6:128761000-128761600	Enhancers	H9 Cell Line	embryonic stem cell
38	chr6:128761200-128761400	Enhancers	Brain Substantia Nigra	brain
39	chr6:128761200-128761400	Enhancers	Small Intestine	intestine
40	chr6:128761200-128761600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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