Variant report

Variant	rs194601
Chromosome Location	chr6:82524209-82524210
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	USF2	chr6:82524162-82524823	Hela-S3	cervix:	n/a	chr6:82524683-82524694 chr6:82524653-82524664
2	MAX	chr6:82524193-82524843	Hela-S3	cervix:	n/a	chr6:82524653-82524663 chr6:82524655-82524664

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:82458586..82464036-chr6:82521971..82527096,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224995	TF binding region
ENSG00000112773	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs194627	0.84[AFR][1000 genomes]
rs194633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830712	chr6:82491029-82654531	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs194601	SNAP91	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82517200-82530600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:82519200-82528800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr6:82522800-82525400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr6:82522800-82531400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr6:82523000-82530000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:82523200-82525200	Weak transcription	HepG2	liver
7	chr6:82523200-82528000	Weak transcription	Primary B cells from cord blood	blood
8	chr6:82523400-82524600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:82523400-82527800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:82523400-82528000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:82523800-82527400	Enhancers	Hela-S3	cervix
12	chr6:82523800-82532600	Enhancers	Stomach Mucosa	stomach
13	chr6:82524000-82525000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:82524000-82525000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:82524000-82525000	Enhancers	NHDF-Ad	bronchial
16	chr6:82524000-82525600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr6:82524000-82528000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr6:82524000-82528200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr6:82524200-82524600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:82524200-82524600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr6:82524200-82524800	Enhancers	HSMM	muscle
22	chr6:82524200-82524800	Enhancers	NHLF	lung
23	chr6:82524200-82525000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:82524200-82525000	Enhancers	Osteobl	bone
25	chr6:82524200-82526400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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