Variant report

Variant	rs6976502
Chromosome Location	chr7:22393100-22393101
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:22391280..22393388-chr7:22394917..22396679,2	K562	blood:
2	chr7:22389519..22393797-chr7:22394454..22398682,6	K562	blood:

Variant related genes	Relation type
ENSG00000136237	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10257172	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12539362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4632961	0.86[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap]
rs7778401	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[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	nsv830923	chr7:22316841-22494973	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22369400-22394800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:22383000-22395200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:22384200-22395800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:22384800-22395000	Weak transcription	Thymus	Thymus
5	chr7:22388400-22395000	Weak transcription	Esophagus	oesophagus
6	chr7:22390600-22395200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:22390800-22395000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:22391200-22395200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:22391600-22393200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:22391600-22394800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:22391800-22393800	Weak transcription	Pancreas	Pancrea
12	chr7:22391800-22394800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:22391800-22395000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:22391800-22395200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:22392200-22393600	Weak transcription	Fetal Thymus	thymus
16	chr7:22392200-22394200	Weak transcription	Fetal Intestine Small	intestine
17	chr7:22392400-22396200	Transcr. at gene 5' and 3'	Dnd41	blood
18	chr7:22392600-22393400	Genic enhancers	HepG2	liver
19	chr7:22392600-22394400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr7:22392600-22394800	ZNF genes & repeats	GM12878-XiMat	blood
21	chr7:22392600-22395000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:22392800-22394400	Weak transcription	Fetal Intestine Large	intestine

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