Variant report

Variant	rs1722725
Chromosome Location	chr7:16714977-16714978
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	chr7:16710116..16713279-chr7:16713867..16716562,3	K562	blood:
2	chr7:16708115..16710287-chr7:16714161..16717064,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10499473	0.83[EUR][1000 genomes]
rs11982578	0.83[EUR][1000 genomes]
rs1674811	0.83[EUR][1000 genomes]
rs17169590	0.83[EUR][1000 genomes]
rs17169591	0.83[EUR][1000 genomes]
rs6961256	0.83[EUR][1000 genomes]
rs706031	1.00[AMR][1000 genomes]
rs706034	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73679835	1.00[EUR][1000 genomes]
rs818496	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs818501	0.83[EUR][1000 genomes]
rs818502	0.83[EUR][1000 genomes]
rs818504	0.83[EUR][1000 genomes]
rs818506	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs818507	1.00[EUR][1000 genomes]
rs818509	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv830912	chr7:16623196-16791974	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv464397	chr7:16709708-16782767	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv606338	chr7:16709708-16782767	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv887760	chr7:16714974-16776257	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16686800-16734400	Weak transcription	Lung	lung
2	chr7:16687600-16730400	Weak transcription	Thymus	Thymus
3	chr7:16692800-16720800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr7:16697800-16717400	Weak transcription	Brain Angular Gyrus	brain
5	chr7:16697800-16734400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:16697800-16736400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:16697800-16736400	Weak transcription	Fetal Brain Male	brain
8	chr7:16700600-16715000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:16701000-16720200	Weak transcription	Gastric	stomach
10	chr7:16701000-16721200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:16701200-16721000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:16701200-16724600	Weak transcription	Small Intestine	intestine
13	chr7:16701200-16734000	Weak transcription	Esophagus	oesophagus
14	chr7:16701200-16736200	Weak transcription	Pancreas	Pancrea
15	chr7:16701200-16736600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:16701800-16752800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:16702400-16734400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:16702600-16720800	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:16702600-16734400	Weak transcription	Spleen	Spleen
20	chr7:16703800-16723800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:16704200-16715000	Weak transcription	Right Ventricle	heart
22	chr7:16704200-16737600	Weak transcription	Aorta	Aorta
23	chr7:16705000-16715000	Weak transcription	Psoas Muscle	Psoas
24	chr7:16705800-16717200	Strong transcription	Primary hematopoietic stem cells	blood
25	chr7:16706800-16717400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:16707800-16715000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr7:16707800-16719800	Weak transcription	Fetal Brain Female	brain
28	chr7:16708000-16715000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:16708000-16721000	Weak transcription	Brain Anterior Caudate	brain
30	chr7:16708200-16737400	Weak transcription	Brain Substantia Nigra	brain
31	chr7:16708400-16719000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr7:16708400-16730800	Weak transcription	Stomach Mucosa	stomach
33	chr7:16708400-16736200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr7:16708800-16747800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:16709800-16717800	Weak transcription	NHEK	skin
36	chr7:16710200-16752400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr7:16710400-16715000	Weak transcription	NH-A	brain
38	chr7:16710400-16720000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr7:16710400-16721800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr7:16710400-16730800	Weak transcription	NHLF	lung
41	chr7:16710800-16719000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr7:16710800-16724200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr7:16711200-16721000	Weak transcription	Fetal Heart	heart
44	chr7:16711400-16715000	Weak transcription	Fetal Stomach	stomach
45	chr7:16711400-16716400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:16711400-16730800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr7:16711600-16715000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:16711600-16715400	Weak transcription	Fetal Intestine Small	intestine
49	chr7:16712200-16719600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:16712200-16723600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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