Variant report

Variant	rs806171
Chromosome Location	chr7:127297914-127297915
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127296504..127298380-chr7:127323608..127326210,2	K562	blood:
2	chr7:127291582..127293542-chr7:127297327..127299302,5	MCF-7	breast:
3	chr7:127297314..127299232-chr7:127410523..127413406,2	K562	blood:

Variant related genes	Relation type
ENSG00000197157	Chromatin interaction
ENSG00000240790	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1019578	0.88[AMR][1000 genomes]
rs10228031	0.88[AMR][1000 genomes]
rs10229187	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1025075	0.83[AMR][1000 genomes]
rs1440973	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1966517	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2582716	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs325438	0.88[AMR][1000 genomes]
rs325439	0.88[AMR][1000 genomes]
rs325443	0.83[AMR][1000 genomes]
rs327509	1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs327514	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs327515	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs327517	1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs327519	0.89[AMR][1000 genomes]
rs327522	0.89[AMR][1000 genomes]
rs452896	0.89[AMR][1000 genomes]
rs4728078	0.88[AMR][1000 genomes]
rs4731379	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4731382	0.88[AMR][1000 genomes]
rs4731383	0.88[AMR][1000 genomes]
rs4731384	0.88[AMR][1000 genomes]
rs537972	1.00[AMR][1000 genomes]
rs6467142	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6467146	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6467147	0.83[AMR][1000 genomes]
rs6467149	0.88[AMR][1000 genomes]
rs6467150	0.88[AMR][1000 genomes]
rs6467151	0.83[AMR][1000 genomes]
rs6950211	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6979918	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs698407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs698409	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs712706	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs712708	0.86[ASW][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.86[MKK][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs712709	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs712710	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs712711	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs712713	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs712714	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs712717	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs712720	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs73720863	0.89[AMR][1000 genomes]
rs806126	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs806161	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs806163	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs806164	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs806165	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs806167	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs806168	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs806170	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs806173	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs809333	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]

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:119 , 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	chr7:127294200-127299000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:127294400-127301600	Weak transcription	Fetal Brain Male	brain
10	chr7:127294600-127307400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr7:127294800-127306200	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:127294800-127307400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:127294800-127327400	Weak transcription	Fetal Kidney	kidney
14	chr7:127295000-127298600	Weak transcription	Gastric	stomach
15	chr7:127295000-127299600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:127295000-127299600	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:127295000-127300400	Weak transcription	Brain Substantia Nigra	brain
18	chr7:127295000-127300800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:127295000-127301200	Weak transcription	Fetal Lung	lung
20	chr7:127295000-127302000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:127295000-127302800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:127295000-127303800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr7:127295000-127307400	Weak transcription	Esophagus	oesophagus
24	chr7:127295000-127314000	Weak transcription	Colon Smooth Muscle	Colon
25	chr7:127295000-127314000	Weak transcription	Ovary	ovary
26	chr7:127295000-127314000	Weak transcription	Spleen	Spleen
27	chr7:127295000-127315600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr7:127295000-127318400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr7:127295000-127322200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr7:127295200-127298600	Weak transcription	Adipose Nuclei	Adipose
31	chr7:127295200-127299200	Weak transcription	HUVEC	blood vessel
32	chr7:127295200-127299400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:127295200-127300800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:127295200-127301000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:127295200-127305600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:127295200-127305800	Weak transcription	Colonic Mucosa	Colon
37	chr7:127295200-127306000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:127295200-127317800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr7:127295200-127321800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:127295400-127299400	Weak transcription	HMEC	breast
41	chr7:127295400-127306800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:127295400-127326400	Weak transcription	Thymus	Thymus
43	chr7:127295600-127300400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:127295600-127301600	Strong transcription	Primary T cells from cord blood	blood
45	chr7:127295600-127304600	Weak transcription	NHDF-Ad	bronchial
46	chr7:127295600-127306000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:127295600-127306000	Weak transcription	Hela-S3	cervix
48	chr7:127295600-127306000	Weak transcription	HSMM	muscle
49	chr7:127295800-127300000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:127296000-127299200	Genic enhancers	HepG2	liver

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