Variant report

Variant	rs9691296
Chromosome Location	chr7:16460527-16460528
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:26795688..26796190-chr7:16460390..16460890,2	NB4	blood:
2	chr7:16441426..16443801-chr7:16458658..16460792,2	K562	blood:
3	chr7:16153945..16154474-chr7:16460404..16460914,2	MCF-7	breast:
4	chr7:16460189..16463814-chr7:16683756..16686111,3	MCF-7	breast:
5	chr7:16460318..16462710-chr7:16792580..16794734,3	K562	blood:
6	chr7:16456001..16461931-chr7:16682283..16687700,6	K562	blood:
7	chr7:16302978..16309646-chr7:16456908..16462647,13	K562	blood:
8	chr7:16459816..16461703-chr7:16684865..16686576,2	MCF-7	breast:
9	chr7:16460318..16460856-chr9:132718251..132719193,2	NB4	blood:
10	chr13:52026790..52027660-chr7:16460336..16460956,2	HCT-116	colon:

No data

Variant related genes	Relation type
ENSG00000236778	Chromatin interaction
ENSG00000229688	Chromatin interaction
ENSG00000136261	Chromatin interaction
ENSG00000127870	Chromatin interaction
ENSG00000106524	Chromatin interaction
ENSG00000106537	Chromatin interaction
ENSG00000102786	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10240752	0.82[EUR][1000 genomes]
rs10257504	0.81[EUR][1000 genomes]
rs10259225	0.81[EUR][1000 genomes]
rs10267886	0.80[EUR][1000 genomes]
rs10272029	0.81[EUR][1000 genomes]
rs10464287	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10950619	0.85[EUR][1000 genomes]
rs11976934	0.82[EUR][1000 genomes]
rs17617900	0.82[EUR][1000 genomes]
rs17680292	0.82[EUR][1000 genomes]
rs2178597	0.80[EUR][1000 genomes]
rs28512480	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56206818	0.81[EUR][1000 genomes]
rs56223703	0.85[EUR][1000 genomes]
rs60989361	0.86[EUR][1000 genomes]
rs6461255	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66743577	0.81[EUR][1000 genomes]
rs6947550	0.82[EUR][1000 genomes]
rs6948660	0.82[EUR][1000 genomes]
rs6949112	0.82[EUR][1000 genomes]
rs6955398	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6958802	0.81[EUR][1000 genomes]
rs7782939	0.89[EUR][1000 genomes]
rs7810822	0.81[EUR][1000 genomes]
rs9655136	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1034151	chr7:16415497-16578081	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16459400-16461400	Active TSS	K562	blood
2	chr7:16459600-16460600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:16459600-16461400	Active TSS	Brain Anterior Caudate	brain
4	chr7:16459600-16461400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:16459600-16461600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr7:16459600-16461600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:16459600-16461600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:16459600-16461600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:16459600-16461600	Flanking Active TSS	HMEC	breast
10	chr7:16459600-16461800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr7:16459600-16462000	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr7:16459800-16460600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr7:16459800-16460600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:16459800-16460600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:16459800-16460600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr7:16459800-16460600	Flanking Active TSS	NHEK	skin
17	chr7:16459800-16461200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:16459800-16461200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:16459800-16461200	Active TSS	Right Atrium	heart
20	chr7:16459800-16461400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr7:16459800-16461400	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr7:16459800-16461400	Active TSS	Brain Angular Gyrus	brain
23	chr7:16459800-16461400	Active TSS	Left Ventricle	heart
24	chr7:16459800-16461400	Active TSS	A549	lung
25	chr7:16459800-16461600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr7:16459800-16461600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr7:16459800-16461600	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr7:16459800-16461800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr7:16459800-16461800	Active TSS	Right Ventricle	heart
30	chr7:16460000-16460600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
31	chr7:16460000-16460600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:16460000-16460600	Flanking Active TSS	NH-A	brain
33	chr7:16460000-16461200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:16460000-16461200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:16460000-16461200	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr7:16460000-16461200	Active TSS	Fetal Intestine Large	intestine
37	chr7:16460000-16461200	Active TSS	Pancreas	Pancrea
38	chr7:16460000-16461200	Active TSS	Stomach Mucosa	stomach
39	chr7:16460000-16461400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr7:16460000-16461400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:16460000-16461400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr7:16460000-16461400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:16460000-16461400	Active TSS	Aorta	Aorta
44	chr7:16460000-16461400	Active TSS	Placenta Amnion	Placenta Amnion
45	chr7:16460000-16461400	Active TSS	Psoas Muscle	Psoas
46	chr7:16460000-16461400	Active TSS	Small Intestine	intestine
47	chr7:16460000-16461600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:16460000-16461600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr7:16460000-16461600	Active TSS	Fetal Muscle Trunk	muscle
50	chr7:16460000-16461600	Active TSS	Ovary	ovary

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