Variant report

Variant	rs2529397
Chromosome Location	chr7:50679362-50679363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:50677365-50683364	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50677711..50679445-chr7:50681048..50682933,2	K562	blood:
2	chr7:50674486..50677439-chr7:50677838..50679790,2	K562	blood:

Variant related genes	Relation type
GRB10	TF binding region
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2715129	0.83[LWK][hapmap];0.84[MKK][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes]
rs740332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1021753	chr7:50671350-50694457	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1020791	chr7:50673666-50694457	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv606906	chr7:50673666-50694457	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 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	chr7:50652400-50687400	Weak transcription	Right Atrium	heart
2	chr7:50654000-50680000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:50658200-50682000	Weak transcription	Colonic Mucosa	Colon
4	chr7:50658200-50690400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:50658800-50686800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:50658800-50690000	Weak transcription	Fetal Kidney	kidney
7	chr7:50659200-50680000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:50659200-50683600	Weak transcription	Small Intestine	intestine
9	chr7:50659800-50687800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:50659800-50697200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:50660600-50688000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:50665000-50688000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:50666600-50680400	Weak transcription	Brain Angular Gyrus	brain
14	chr7:50667000-50686200	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:50667200-50682000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:50667600-50681600	Weak transcription	HepG2	liver
17	chr7:50668000-50689000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:50671200-50687400	Weak transcription	Fetal Brain Male	brain
19	chr7:50671400-50680400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:50671600-50696800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:50672600-50681800	Weak transcription	Fetal Heart	heart
22	chr7:50673200-50681800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:50674000-50679400	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:50674000-50679600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr7:50674000-50681400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:50674200-50679600	Weak transcription	Brain Anterior Caudate	brain
27	chr7:50674200-50680000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:50674200-50680400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:50674200-50680400	Weak transcription	Brain Substantia Nigra	brain
30	chr7:50674200-50694000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:50674200-50709800	Weak transcription	Esophagus	oesophagus
32	chr7:50674400-50679600	Weak transcription	Psoas Muscle	Psoas
33	chr7:50674400-50679600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr7:50674400-50680000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:50674400-50680600	Weak transcription	A549	lung
36	chr7:50674400-50681600	Weak transcription	NHLF	lung
37	chr7:50674400-50699000	Weak transcription	Brain Germinal Matrix	brain
38	chr7:50674600-50680400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr7:50674600-50681000	Weak transcription	Fetal Intestine Large	intestine
40	chr7:50674800-50681000	Weak transcription	Fetal Brain Female	brain
41	chr7:50675400-50679800	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr7:50675400-50680200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:50675600-50679600	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr7:50676200-50681400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr7:50676800-50681400	Strong transcription	Liver	Liver
46	chr7:50676800-50686200	Strong transcription	Hela-S3	cervix
47	chr7:50676800-50688200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr7:50677000-50680600	Strong transcription	Stomach Smooth Muscle	stomach
49	chr7:50677000-50685800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:50677000-50686800	Strong transcription	Skeletal Muscle Male	skeletal muscle

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