Variant report

Variant	rs809333
Chromosome Location	chr7:127312546-127312547
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127308000..127310358-chr7:127310705..127312851,2	K562	blood:
2	chr7:127310485..127313319-chr7:127316209..127320078,3	K562	blood:
3	chr7:127225873..127228511-chr7:127312277..127314743,2	MCF-7	breast:
4	chr7:127304778..127307957-chr7:127308207..127312906,6	K562	blood:

Variant related genes	Relation type
ENSG00000197157	Chromatin interaction
ENSG00000004059	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1019578	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10228031	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10229187	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1025075	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1440973	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1833146	0.83[ASN][1000 genomes]
rs1966517	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2582716	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs325438	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs325439	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs325443	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs325448	0.83[ASN][1000 genomes]
rs325449	0.83[ASN][1000 genomes]
rs325450	0.83[ASN][1000 genomes]
rs327509	1.00[AMR][1000 genomes]
rs327514	1.00[AMR][1000 genomes]
rs327515	1.00[AMR][1000 genomes]
rs327517	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];0.83[ASN][1000 genomes]
rs4731379	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4731382	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4731383	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4731384	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs537972	1.00[AMR][1000 genomes]
rs6467142	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6467146	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6467147	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6467149	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6467150	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6467151	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6950211	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6979918	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs698407	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs698409	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712706	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs712708	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs712709	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs712710	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs712711	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs712713	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs712714	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs712717	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs712720	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73720863	0.89[AMR][1000 genomes]
rs806126	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs806161	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs806163	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs806164	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs806165	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs806167	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs806168	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs806170	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs806171	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs806173	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs806182	0.89[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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127293200-127322000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:127293200-127326600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:127294800-127327400	Weak transcription	Fetal Kidney	kidney
4	chr7:127295000-127314000	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:127295000-127314000	Weak transcription	Ovary	ovary
6	chr7:127295000-127314000	Weak transcription	Spleen	Spleen
7	chr7:127295000-127315600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:127295000-127318400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:127295000-127322200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr7:127295200-127317800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr7:127295200-127321800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:127295400-127326400	Weak transcription	Thymus	Thymus
13	chr7:127296200-127318200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr7:127296200-127326600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:127296600-127314000	Weak transcription	Lung	lung
16	chr7:127296600-127314000	Weak transcription	Right Ventricle	heart
17	chr7:127299000-127313400	Weak transcription	Gastric	stomach
18	chr7:127299000-127318600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:127299000-127334400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr7:127299600-127315800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:127300600-127320400	Weak transcription	Placenta	Placenta
22	chr7:127300800-127319800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr7:127301600-127314000	Weak transcription	Fetal Lung	lung
24	chr7:127301800-127315800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:127304600-127314400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr7:127304600-127316200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:127304600-127326600	Weak transcription	Fetal Stomach	stomach
28	chr7:127304800-127319000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr7:127304800-127319000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr7:127305200-127313400	Weak transcription	Psoas Muscle	Psoas
31	chr7:127305200-127326600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:127306200-127314000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:127306400-127315600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr7:127306400-127315800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:127306400-127318200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:127306600-127315600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr7:127306600-127323600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:127307000-127314000	Weak transcription	Pancreas	Pancrea
39	chr7:127307000-127322000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr7:127307000-127324200	Weak transcription	Fetal Heart	heart
41	chr7:127307000-127324200	Weak transcription	Stomach Mucosa	stomach
42	chr7:127307000-127330200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr7:127307200-127313600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:127307200-127323200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr7:127307600-127313400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:127307600-127314000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:127307800-127313400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:127307800-127324400	Weak transcription	Small Intestine	intestine
49	chr7:127308000-127323600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:127308200-127313000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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