Variant report

Variant	rs12530111
Chromosome Location	chr6:12007599-12007600
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	chr6:12007582-12014072	GM12892	blood:	n/a	n/a
2	POLR2A	chr6:12007580-12016124	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:12007581-12012142	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:11990947..11994181-chr6:12007149..12010077,3	K562	blood:

Variant related genes	Relation type
HIVEP1	TF binding region
ENSG00000229896	TF binding region
ENSG00000225102	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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	nsv970323	chr6:12006884-12020375	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11995600-12007800	Weak transcription	Hela-S3	cervix
2	chr6:11998400-12007800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:11999600-12008400	Weak transcription	Psoas Muscle	Psoas
4	chr6:12001600-12008400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:12001800-12008200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:12001800-12008400	Weak transcription	Osteobl	bone
7	chr6:12002000-12008200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:12002000-12008200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr6:12002200-12008400	Weak transcription	Adipose Nuclei	Adipose
10	chr6:12002200-12008400	Weak transcription	Fetal Brain Female	brain
11	chr6:12004600-12008000	Weak transcription	Brain Germinal Matrix	brain
12	chr6:12007000-12008200	Enhancers	Fetal Intestine Large	intestine
13	chr6:12007200-12007600	Flanking Active TSS	HepG2	liver
14	chr6:12007200-12007800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:12007200-12007800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:12007200-12007800	Enhancers	Fetal Kidney	kidney
17	chr6:12007200-12007800	Enhancers	Fetal Muscle Leg	muscle
18	chr6:12007200-12007800	Enhancers	NHEK	skin
19	chr6:12007200-12008000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:12007200-12008200	Enhancers	Fetal Heart	heart
21	chr6:12007200-12008200	Enhancers	Fetal Intestine Small	intestine
22	chr6:12007200-12008200	Enhancers	Fetal Lung	lung
23	chr6:12007200-12008600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:12007400-12007600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:12007400-12007800	Enhancers	Fetal Muscle Trunk	muscle
26	chr6:12007400-12008200	Enhancers	Primary hematopoietic stem cells	blood
27	chr6:12007400-12008200	Enhancers	Fetal Stomach	stomach
28	chr6:12007400-12008200	Enhancers	Pancreas	Pancrea
29	chr6:12007400-12008200	Weak transcription	NHDF-Ad	bronchial
30	chr6:12007400-12013400	Active TSS	K562	blood

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