Variant report

Variant	rs696280
Chromosome Location	chr7:16713757-16713758
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16685826..16687639-chr7:16712666..16714460,2	MCF-7	breast:
2	chr7:16711750..16714387-chr7:16719300..16721496,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs818501	0.86[AMR][1000 genomes]
rs818502	0.86[AMR][1000 genomes]
rs818504	0.86[AMR][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	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

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	chr7:16691400-16714400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr7:16691800-16714600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:16692800-16720800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr7:16693400-16714400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:16695600-16714400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr7:16697800-16714400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:16697800-16714800	Weak transcription	Ovary	ovary
10	chr7:16697800-16717400	Weak transcription	Brain Angular Gyrus	brain
11	chr7:16697800-16734400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:16697800-16736400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:16697800-16736400	Weak transcription	Fetal Brain Male	brain
14	chr7:16700600-16715000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:16700800-16714400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:16701000-16714000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr7:16701000-16714800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:16701000-16720200	Weak transcription	Gastric	stomach
19	chr7:16701000-16721200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:16701200-16721000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:16701200-16724600	Weak transcription	Small Intestine	intestine
22	chr7:16701200-16734000	Weak transcription	Esophagus	oesophagus
23	chr7:16701200-16736200	Weak transcription	Pancreas	Pancrea
24	chr7:16701200-16736600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:16701800-16752800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:16702400-16714400	Weak transcription	Fetal Lung	lung
27	chr7:16702400-16734400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:16702600-16720800	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:16702600-16734400	Weak transcription	Spleen	Spleen
30	chr7:16703800-16714600	Weak transcription	Fetal Kidney	kidney
31	chr7:16703800-16723800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:16704200-16715000	Weak transcription	Right Ventricle	heart
33	chr7:16704200-16737600	Weak transcription	Aorta	Aorta
34	chr7:16705000-16715000	Weak transcription	Psoas Muscle	Psoas
35	chr7:16705600-16714200	Weak transcription	Liver	Liver
36	chr7:16705800-16717200	Strong transcription	Primary hematopoietic stem cells	blood
37	chr7:16706600-16714400	Weak transcription	Brain Germinal Matrix	brain
38	chr7:16706800-16714400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:16706800-16717400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:16707000-16714000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr7:16707600-16714600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:16707800-16715000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr7:16707800-16719800	Weak transcription	Fetal Brain Female	brain
44	chr7:16708000-16714000	Weak transcription	Fetal Muscle Leg	muscle
45	chr7:16708000-16714000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr7:16708000-16715000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:16708000-16721000	Weak transcription	Brain Anterior Caudate	brain
48	chr7:16708200-16714800	Weak transcription	Brain Hippocampus Middle	brain
49	chr7:16708200-16737400	Weak transcription	Brain Substantia Nigra	brain
50	chr7:16708400-16714000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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