Variant report

Variant	rs806169
Chromosome Location	chr7:127300668-127300669
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127298406..127301093-chr7:127304305..127307205,3	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11772303	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12540484	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12667197	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12668077	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs1419967	0.81[ASN][1000 genomes]
rs1419968	0.83[JPT][hapmap]
rs17151229	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2402871	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2582717	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs327510	0.85[CHB][hapmap]
rs327512	0.81[CHB][hapmap]
rs327516	0.81[CHB][hapmap]
rs3757778	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3757780	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3808088	0.80[ASN][1000 genomes]
rs3824003	0.82[ASN][1000 genomes]
rs4728079	0.81[ASN][1000 genomes]
rs4731377	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56185520	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58106688	0.81[ASN][1000 genomes]
rs59140894	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62481385	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62481416	0.81[ASN][1000 genomes]
rs62481419	0.81[ASN][1000 genomes]
rs62481443	0.80[ASN][1000 genomes]
rs67338333	0.81[ASN][1000 genomes]
rs698406	0.86[CHB][hapmap]
rs698408	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs712697	0.85[CHB][hapmap]
rs712700	0.90[CHB][hapmap]
rs712701	0.90[CHB][hapmap]
rs712703	0.90[CHB][hapmap]
rs712704	0.90[CHB][hapmap]
rs712707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs712715	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs712718	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs712719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs765971	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs806166	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs806172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs806174	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs806175	0.95[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs806180	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs806188	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs806193	0.87[CHB][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	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127293000-127304000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:127293200-127302200	Weak transcription	Aorta	Aorta
3	chr7:127293200-127304200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:127293200-127306000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:127293200-127306000	Weak transcription	Fetal Brain Female	brain
6	chr7:127293200-127322000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:127293200-127326600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:127294400-127301600	Weak transcription	Fetal Brain Male	brain
9	chr7:127294600-127307400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:127294800-127306200	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:127294800-127307400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:127294800-127327400	Weak transcription	Fetal Kidney	kidney
13	chr7:127295000-127300800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:127295000-127301200	Weak transcription	Fetal Lung	lung
15	chr7:127295000-127302000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:127295000-127302800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:127295000-127303800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr7:127295000-127307400	Weak transcription	Esophagus	oesophagus
19	chr7:127295000-127314000	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:127295000-127314000	Weak transcription	Ovary	ovary
21	chr7:127295000-127314000	Weak transcription	Spleen	Spleen
22	chr7:127295000-127315600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr7:127295000-127318400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:127295000-127322200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr7:127295200-127300800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:127295200-127301000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:127295200-127305600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:127295200-127305800	Weak transcription	Colonic Mucosa	Colon
29	chr7:127295200-127306000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:127295200-127317800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr7:127295200-127321800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:127295400-127306800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr7:127295400-127326400	Weak transcription	Thymus	Thymus
34	chr7:127295600-127301600	Strong transcription	Primary T cells from cord blood	blood
35	chr7:127295600-127304600	Weak transcription	NHDF-Ad	bronchial
36	chr7:127295600-127306000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr7:127295600-127306000	Weak transcription	Hela-S3	cervix
38	chr7:127295600-127306000	Weak transcription	HSMM	muscle
39	chr7:127296000-127301400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:127296000-127304200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:127296000-127305600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:127296000-127308800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr7:127296200-127300800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr7:127296200-127300800	Strong transcription	NH-A	brain
45	chr7:127296200-127301000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr7:127296200-127303800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:127296200-127304800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr7:127296200-127304800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:127296200-127305800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr7:127296200-127306000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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