Variant report

Variant	rs946276
Chromosome Location	chr1:9950140-9950141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9943092..9944690-chr1:9948920..9950860,2	MCF-7	breast:
2	chr1:9949753..9951376-chr1:9968625..9970259,2	MCF-7	breast:
3	chr1:9942393..9946053-chr1:9949993..9953105,3	K562	blood:
4	chr1:9948830..9950649-chr1:9965085..9967755,2	K562	blood:
5	chr1:9944846..9946989-chr1:9947780..9950695,2	MCF-7	breast:
6	chr1:9948461..9950463-chr1:9972142..9973829,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11808614	1.00[MEX][hapmap];0.81[YRI][hapmap]
rs61785592	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs61785594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61785597	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6680882	0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74054123	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74054124	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7539650	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv871146	chr1:9897001-9951288	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv545380	chr1:9918183-9987007	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS 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 miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9932600-9960200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:9935600-9950200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:9935600-9960800	Weak transcription	Fetal Intestine Large	intestine
4	chr1:9935800-9950800	Weak transcription	Aorta	Aorta
5	chr1:9936400-9960200	Weak transcription	Liver	Liver
6	chr1:9938600-9952800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:9940800-9952400	Strong transcription	Fetal Intestine Small	intestine
8	chr1:9942400-9950600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:9943000-9960200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:9943200-9961600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:9943600-9960800	Weak transcription	Primary T cells from cord blood	blood
12	chr1:9944600-9950600	Weak transcription	Ovary	ovary
13	chr1:9946600-9950600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:9946800-9950200	Weak transcription	A549	lung
15	chr1:9946800-9950200	Weak transcription	K562	blood
16	chr1:9947000-9950600	Weak transcription	Colonic Mucosa	Colon
17	chr1:9947000-9952000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:9947000-9953600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:9947200-9950600	Weak transcription	Gastric	stomach
20	chr1:9947600-9950600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:9948200-9955400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:9948400-9950200	Enhancers	HMEC	breast
23	chr1:9948600-9950200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:9948600-9950200	Genic enhancers	Fetal Muscle Leg	muscle
25	chr1:9948600-9950200	Genic enhancers	NHEK	skin
26	chr1:9948600-9950400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:9948600-9951200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:9948600-9951400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:9948600-9951600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr1:9948600-9951600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:9948600-9951600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:9948600-9951600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:9948600-9951600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr1:9948600-9951800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:9948600-9951800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:9948600-9952800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:9948600-9954600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr1:9948600-9954800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:9948800-9950200	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr1:9948800-9950200	Strong transcription	Brain Germinal Matrix	brain
41	chr1:9948800-9950400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:9948800-9950600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:9948800-9951400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr1:9948800-9951600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr1:9948800-9951600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr1:9948800-9951600	Enhancers	Placenta Amnion	Placenta Amnion
47	chr1:9948800-9951800	Enhancers	Fetal Muscle Trunk	muscle
48	chr1:9948800-9951800	Enhancers	Right Atrium	heart
49	chr1:9948800-9953400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:9948800-9953800	Enhancers	Placenta	Placenta

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