Variant report

Variant	rs6611391
Chromosome Location	chrX:54948152-54948153
allele	A/T
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	CTCF	chrX:54948100-54948250	AG04449	skin:	n/a	n/a
2	CTCF	chrX:54948120-54948270	GM12866	blood:	n/a	n/a
3	JUND	chrX:54947880-54948385	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chrX:54948015-54948296	H1-hESC	embryonic stem cell:	n/a	n/a
5	NRF1	chrX:54948138-54948564	H1-hESC	embryonic stem cell:	n/a	chrX:54948319-54948328 chrX:54948317-54948331 chrX:54948403-54948412 chrX:54948317-54948326 chrX:54948403-54948414 chrX:54948405-54948414 chrX:54948314-54948328 chrX:54948400-54948414 chrX:54948324-54948333 chrX:54948317-54948328 chrX:54948403-54948417
6	POLR2A	chrX:54947659-54948677	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chrX:54946980-54948318	HepG2	liver:	n/a	n/a
8	POLR2A	chrX:54947805-54948425	ProgFib	skin:	n/a	n/a
9	CTCF	chrX:54948020-54948170	GM12871	blood:	n/a	n/a
10	HEY1	chrX:54948142-54948436	HepG2	liver:	n/a	n/a
11	POLR2A	chrX:54948064-54948453	ECC-1	luminal epithelium:	n/a	n/a
12	SIN3A	chrX:54947090-54948632	H1-hESC	embryonic stem cell:	n/a	chrX:54948054-54948065
13	TAF1	chrX:54947708-54948395	H1-neurons	neurons:	n/a	n/a
14	MYC	chrX:54948114-54948199	H1-hESC	embryonic stem cell:	n/a	chrX:54948167-54948177
15	CTCF	chrX:54948020-54948170	HBMEC	blood vessel:	n/a	n/a
16	CTCF	chrX:54948031-54948335	GM19239	blood:	n/a	n/a
17	POLR2A	chrX:54948043-54948482	ECC-1	luminal epithelium:	n/a	n/a
18	CTCF	chrX:54948020-54948170	AG09309	skin:	n/a	n/a
19	POLR2A	chrX:54948073-54948331	U87	brain:	n/a	n/a
20	RAD21	chrX:54947848-54948315	H1-hESC	embryonic stem cell:	n/a	chrX:54948266-54948276
21	CTCF	chrX:54948120-54948270	AG04450	lung:	n/a	n/a
22	POLR2A	chrX:54948066-54948384	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chrX:54948100-54948250	AoAF	blood vessel:	n/a	n/a
24	CTCF	chrX:54948080-54948230	NHDF-neo	bronchial:	n/a	n/a
25	POLR2A	chrX:54948106-54948467	SK-N-SH	brain:	n/a	n/a
26	REST	chrX:54946863-54948393	H1-neurons	neurons:	n/a	chrX:54948009-54948022 chrX:54948062-54948075 chrX:54948164-54948177
27	POLR2A	chrX:54946947-54948651	H1-neurons	neurons:	n/a	n/a
28	TAF1	chrX:54948031-54948316	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chrX:54948119-54948440	H1-hESC	embryonic stem cell:	n/a	n/a
30	PBX3	chrX:54948100-54948559	SK-N-SH	brain:	n/a	n/a
31	NRF1	chrX:54948025-54948856	SK-N-SH	brain:	n/a	chrX:54948319-54948328 chrX:54948317-54948331 chrX:54948403-54948412 chrX:54948317-54948326 chrX:54948403-54948414 chrX:54948405-54948414 chrX:54948314-54948328 chrX:54948400-54948414 chrX:54948324-54948333 chrX:54948317-54948328 chrX:54948403-54948417
32	POLR2A	chrX:54948020-54948485	PFSK-1	brain:	n/a	n/a
33	CTCF	chrX:54948080-54948230	HA-sp	spinal cord:	n/a	n/a
34	POLR2A	chrX:54947706-54948473	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:54945949..54949163-chrX:54951177..54953540,3	K562	blood:

Variant related genes	Relation type
TRO	TF binding region
ENSG00000067445	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1043031	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1043034	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1043044	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12014660	0.90[CEU][hapmap];0.81[CHB][hapmap];0.80[JPT][hapmap]
rs12851962	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs12858090	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12858147	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2005463	0.89[CEU][hapmap];0.80[JPT][hapmap]
rs2071932	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2071933	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2071934	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2273138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2281383	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs2361189	0.95[CEU][hapmap]
rs3765479	1.00[CEU][hapmap];0.88[CHB][hapmap];0.86[YRI][hapmap]
rs4826364	0.89[CEU][hapmap];0.87[CHB][hapmap]
rs4826365	0.89[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap]
rs5914241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5960055	1.00[CEU][hapmap];0.87[CHB][hapmap]
rs5960336	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs743974	0.94[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap]
rs763183	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs763184	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:54946800-54948400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chrX:54946800-54948400	Active TSS	Fetal Brain Male	brain
3	chrX:54946800-54948400	Active TSS	Fetal Muscle Leg	muscle
4	chrX:54946800-54948400	Active TSS	Stomach Smooth Muscle	stomach
5	chrX:54946800-54948600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chrX:54946800-54948600	Active TSS	H1 Cell Line	embryonic stem cell
7	chrX:54946800-54948600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chrX:54946800-54948600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chrX:54946800-54948600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chrX:54946800-54948600	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chrX:54946800-54948600	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chrX:54946800-54948600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chrX:54946800-54948600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chrX:54946800-54948600	Active TSS	Brain Anterior Caudate	brain
15	chrX:54946800-54948600	Active TSS	Brain Inferior Temporal Lobe	brain
16	chrX:54946800-54948600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chrX:54946800-54948600	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chrX:54946800-54948600	Active TSS	Fetal Brain Female	brain
19	chrX:54946800-54948600	Active TSS	Fetal Kidney	kidney
20	chrX:54946800-54948800	Active TSS	H9 Cell Line	embryonic stem cell
21	chrX:54946800-54948800	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chrX:54946800-54948800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chrX:54946800-54948800	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chrX:54946800-54948800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chrX:54946800-54948800	Active TSS	Brain Hippocampus Middle	brain
26	chrX:54946800-54948800	Active TSS	Fetal Lung	lung
27	chrX:54946800-54948800	Active TSS	Fetal Stomach	stomach
28	chrX:54946800-54949000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chrX:54946800-54949000	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chrX:54946800-54949000	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chrX:54946800-54949000	Active TSS	Brain Germinal Matrix	brain
32	chrX:54946800-54949000	Active TSS	Brain Substantia Nigra	brain
33	chrX:54947000-54948400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chrX:54947000-54948400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
35	chrX:54947000-54948400	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chrX:54947000-54948400	Active TSS	Aorta	Aorta
37	chrX:54947000-54948400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chrX:54947000-54948400	Active TSS	Fetal Thymus	thymus
39	chrX:54947000-54948400	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chrX:54947000-54948400	Active TSS	NHDF-Ad	bronchial
41	chrX:54947000-54948400	Active TSS	NHLF	lung
42	chrX:54947000-54948600	Active TSS	Muscle Satellite Cultured Cells	--
43	chrX:54947000-54948600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chrX:54947000-54948600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chrX:54947000-54948600	Active TSS	Brain Angular Gyrus	brain
46	chrX:54947000-54948600	Active TSS	Brain Cingulate Gyrus	brain
47	chrX:54947000-54948600	Active TSS	Colon Smooth Muscle	Colon
48	chrX:54947000-54948600	Active TSS	Fetal Heart	heart
49	chrX:54947000-54948600	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chrX:54947000-54948600	Active TSS	Ovary	ovary

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