Variant report

Variant	rs2694580
Chromosome Location	chr7:128797818-128797819
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	chr7:128797399-128797877	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128743990..128745611-chr7:128795942..128798106,2	K562	blood:

Variant related genes	Relation type
TSPAN33	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10239495	0.83[AFR][1000 genomes]
rs13225907	1.00[MKK][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs13240484	1.00[AMR][1000 genomes]
rs2694579	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2694581	1.00[MKK][hapmap];0.87[YRI][hapmap]
rs2703099	0.87[YRI][hapmap]
rs2718103	1.00[AMR][1000 genomes]
rs4731559	0.87[YRI][hapmap]
rs4731560	1.00[AMR][1000 genomes]
rs6962821	0.88[YRI][hapmap]
rs968367	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829719	chr7:128602992-128810971	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv831127	chr7:128716256-128874691	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128785800-128807400	Weak transcription	Primary T cells from cord blood	blood
2	chr7:128785800-128808000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:128786000-128800200	Weak transcription	Brain Anterior Caudate	brain
4	chr7:128786600-128801800	Weak transcription	Liver	Liver
5	chr7:128788800-128802200	Weak transcription	Spleen	Spleen
6	chr7:128790200-128799600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:128790200-128808600	Weak transcription	Right Atrium	heart
8	chr7:128790400-128809000	Weak transcription	Pancreas	Pancrea
9	chr7:128790600-128799800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:128790600-128806600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:128790800-128804200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:128790800-128808800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr7:128791000-128799400	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:128791000-128808600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:128791200-128801600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:128791200-128807800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:128791400-128804400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:128792000-128801600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:128792400-128801400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:128795600-128798600	Strong transcription	Primary B cells from cord blood	blood
21	chr7:128796200-128798000	ZNF genes & repeats	GM12878-XiMat	blood
22	chr7:128796400-128799600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr7:128797400-128802400	Weak transcription	Fetal Intestine Small	intestine
24	chr7:128797800-128799400	Weak transcription	Brain Hippocampus Middle	brain

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