Variant report

Variant	rs6919247
Chromosome Location	chr6:134090233-134090234
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	NFIC	chr6:134089821-134090364	ECC-1	luminal epithelium:	n/a	chr6:134090204-134090220 chr6:134090203-134090220
2	TCF7L2	chr6:134089769-134090239	HEK293	kidney:	n/a	n/a
3	NFIC	chr6:134089923-134090411	ECC-1	luminal epithelium:	n/a	chr6:134090204-134090220 chr6:134090203-134090220
4	GATA2	chr6:134089701-134090279	HUVEC	blood vessel:	n/a	chr6:134089932-134089942

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:134088786..134091123-chr6:134095739..134097399,2	K562	blood:

Variant related genes	Relation type
ENSG00000227954	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59330925	0.88[AFR][1000 genomes]
rs999659	0.88[AFR][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	nsv830812	chr6:133993897-134165407	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv34122	chr6:134089019-134378252	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134073400-134090600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:134086200-134090600	Weak transcription	HSMMtube	muscle
3	chr6:134086200-134112400	Weak transcription	Aorta	Aorta
4	chr6:134086400-134091200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:134088200-134090800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:134088400-134091000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr6:134088800-134090600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:134089000-134092400	Weak transcription	NHLF	lung
9	chr6:134089000-134095400	Weak transcription	A549	lung
10	chr6:134089400-134091000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:134089600-134090800	Enhancers	NHEK	skin
12	chr6:134089600-134091000	Enhancers	Fetal Lung	lung
13	chr6:134089800-134090400	Enhancers	HMEC	breast
14	chr6:134089800-134090600	Enhancers	HUVEC	blood vessel
15	chr6:134089800-134090800	Enhancers	Ovary	ovary
16	chr6:134089800-134091000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:134089800-134091000	Enhancers	Fetal Kidney	kidney
18	chr6:134089800-134091000	Enhancers	Osteobl	bone
19	chr6:134089800-134091200	Enhancers	NH-A	brain
20	chr6:134090000-134090800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:134090000-134090800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:134090000-134090800	Enhancers	Fetal Intestine Small	intestine
23	chr6:134090000-134090800	Enhancers	Fetal Stomach	stomach
24	chr6:134090000-134091000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:134090000-134091000	Enhancers	NHDF-Ad	bronchial
26	chr6:134090000-134091200	Enhancers	HSMM	muscle
27	chr6:134090200-134090800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:134090200-134091000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:134090200-134091000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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