Variant report

Variant	rs12012211
Chromosome Location	chrX:31141787-31141788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16989350	0.82[ASW][hapmap]
rs17340533	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs17340540	1.00[GIH][hapmap];0.87[JPT][hapmap]
rs2404154	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7886658	1.00[GIH][hapmap]

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	nsv530449	chrX:30962926-31375215	Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3416705	chrX:31099481-31213379	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA target site	1 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	chrX:31131000-31144400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chrX:31131000-31149400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chrX:31131200-31144000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chrX:31132800-31143400	Weak transcription	Fetal Muscle Trunk	muscle
5	chrX:31133400-31156200	Weak transcription	Colon Smooth Muscle	Colon
6	chrX:31134000-31144000	Weak transcription	Ovary	ovary
7	chrX:31134000-31188200	Weak transcription	Aorta	Aorta
8	chrX:31135400-31143200	Weak transcription	Fetal Muscle Leg	muscle
9	chrX:31135800-31163800	Weak transcription	Rectal Smooth Muscle	rectum
10	chrX:31135800-31182800	Weak transcription	Pancreas	Pancrea
11	chrX:31136000-31144200	Weak transcription	HSMMtube	muscle
12	chrX:31136200-31154000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chrX:31136200-31156200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chrX:31136400-31143400	Weak transcription	Left Ventricle	heart
15	chrX:31136600-31150000	Weak transcription	Fetal Intestine Large	intestine
16	chrX:31136800-31155800	Weak transcription	Stomach Smooth Muscle	stomach
17	chrX:31137200-31143400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chrX:31137200-31183000	Weak transcription	Gastric	stomach
19	chrX:31137800-31144000	Weak transcription	NH-A	brain
20	chrX:31137800-31165200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chrX:31138000-31154200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chrX:31138400-31156200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chrX:31139200-31143400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chrX:31140200-31227600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chrX:31140400-31170200	Strong transcription	Hela-S3	cervix
26	chrX:31140600-31141800	Weak transcription	Liver	Liver
27	chrX:31140600-31206000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chrX:31141200-31142400	Enhancers	Fetal Heart	heart
29	chrX:31141400-31167000	Weak transcription	Right Ventricle	heart

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