Variant report

Variant	rs6971854
Chromosome Location	chr7:120476825-120476826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120475241..120477501-chr7:120481801..120483425,2	MCF-7	breast:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10225453	0.81[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs10238554	0.83[ASN][1000 genomes]
rs10252911	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs10257297	0.88[ASN][1000 genomes]
rs10257475	0.88[ASN][1000 genomes]
rs10261886	0.85[CHB][hapmap]
rs10266755	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs10272601	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs10274689	0.86[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs10279837	0.85[ASN][1000 genomes]
rs10282072	0.83[ASN][1000 genomes]
rs11982493	0.85[ASN][1000 genomes]
rs12669167	0.84[ASN][1000 genomes]
rs17132716	0.83[CHB][hapmap];0.90[ASN][1000 genomes]
rs17142974	1.00[CEU][hapmap]
rs17142995	0.86[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs17143055	0.85[CHB][hapmap]
rs1859316	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1859319	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs2074577	0.85[CHB][hapmap]
rs2097806	0.82[CHB][hapmap]
rs2107276	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2189452	0.80[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs2244863	0.85[CHB][hapmap]
rs2244865	0.80[CHB][hapmap]
rs2248890	0.85[CHB][hapmap]
rs2525708	0.84[ASN][1000 genomes]
rs2525712	0.80[CHB][hapmap]
rs2525713	0.80[CHB][hapmap]
rs2721341	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs2721343	0.82[ASN][1000 genomes]
rs2721347	0.86[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs2721354	0.90[CHB][hapmap]
rs2721363	0.85[CHB][hapmap]
rs3757556	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs3757557	0.85[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs3779386	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3779387	0.81[CHB][hapmap];0.90[ASN][1000 genomes]
rs3779388	0.81[CHB][hapmap];0.85[ASN][1000 genomes]
rs3779389	0.80[CHB][hapmap]
rs3814460	0.82[ASN][1000 genomes]
rs3823859	0.90[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs3823861	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs4141309	0.85[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs41624	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs41629	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs41632	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs41688	0.80[CHB][hapmap]
rs41690	0.85[CHB][hapmap]
rs4461820	0.85[CHB][hapmap]
rs55855220	0.84[ASN][1000 genomes]
rs58686737	0.85[ASN][1000 genomes]
rs60837162	0.85[ASN][1000 genomes]
rs6466759	0.81[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs6466760	0.81[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs6466761	0.85[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs6466762	0.90[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs6953454	0.81[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs6958947	0.87[ASN][1000 genomes]
rs6959328	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs6961583	0.82[ASN][1000 genomes]
rs6964344	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs6964667	0.82[ASN][1000 genomes]
rs6964786	0.84[ASN][1000 genomes]
rs6975372	0.85[CHB][hapmap]
rs6979247	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs714259	0.95[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs732568	0.84[ASN][1000 genomes]
rs73427805	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73427831	0.87[ASN][1000 genomes]
rs73427834	0.85[ASN][1000 genomes]
rs73427866	0.85[ASN][1000 genomes]
rs73429803	0.88[ASN][1000 genomes]
rs7776721	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7781985	0.90[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs7789807	0.88[ASN][1000 genomes]
rs7800318	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7805211	0.85[ASN][1000 genomes]
rs9649429	0.88[ASN][1000 genomes]
rs996903	0.85[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818826	chr7:120405335-120622836	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv5929	chr7:120467591-120513472	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120443000-120488000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:120445200-120494400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:120466000-120479600	Weak transcription	Ovary	ovary
4	chr7:120466800-120482400	Weak transcription	Small Intestine	intestine
5	chr7:120468400-120479000	Weak transcription	Fetal Heart	heart
6	chr7:120468600-120477000	Weak transcription	Fetal Stomach	stomach
7	chr7:120468600-120482200	Weak transcription	Pancreas	Pancrea
8	chr7:120468600-120482400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:120468600-120483200	Weak transcription	Right Ventricle	heart
10	chr7:120468600-120487600	Weak transcription	Lung	lung
11	chr7:120470600-120484600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:120471800-120479800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:120472000-120479600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:120472600-120479800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:120473800-120482000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:120474000-120477200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:120474000-120480000	Weak transcription	HSMMtube	muscle
18	chr7:120474000-120482000	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:120474000-120482200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:120474000-120482200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:120474000-120492400	Weak transcription	Fetal Lung	lung
22	chr7:120474000-120496400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr7:120474400-120481200	Strong transcription	Fetal Intestine Large	intestine
24	chr7:120474600-120478800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:120474600-120496600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr7:120475400-120477800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr7:120475400-120478400	Weak transcription	Adipose Nuclei	Adipose
28	chr7:120475400-120479000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:120475600-120480000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:120475600-120480000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:120475800-120478000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:120475800-120478000	Strong transcription	Fetal Intestine Small	intestine
33	chr7:120476000-120477000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr7:120476000-120477000	Strong transcription	Fetal Muscle Trunk	muscle
35	chr7:120476000-120477000	Strong transcription	HUVEC	blood vessel
36	chr7:120476000-120477800	Enhancers	GM12878-XiMat	blood
37	chr7:120476000-120478200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:120476000-120478400	Weak transcription	Hela-S3	cervix
39	chr7:120476000-120478800	Strong transcription	Fetal Muscle Leg	muscle
40	chr7:120476000-120479200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr7:120476200-120477000	Strong transcription	Liver	Liver
42	chr7:120476200-120477200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr7:120476200-120477600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr7:120476200-120478000	Strong transcription	Left Ventricle	heart
45	chr7:120476200-120478800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:120476400-120477000	Enhancers	H9 Cell Line	embryonic stem cell
47	chr7:120476400-120477000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr7:120476400-120477200	Strong transcription	Aorta	Aorta
49	chr7:120476400-120484200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:120476600-120477000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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