Variant report

Variant	rs12557771
Chromosome Location	chrX:80066008-80066009
allele	C/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	POLR2A	chrX:80065163-80066372	HepG2	liver:	n/a	n/a
2	MAX	chrX:80065325-80066364	NB4	blood:	n/a	chrX:80066025-80066032 chrX:80066025-80066034 chrX:80065386-80065396
3	MYC	chrX:80065174-80066244	K562	blood:	n/a	chrX:80066025-80066032 chrX:80066025-80066034 chrX:80065386-80065396
4	POLR2A	chrX:80062969-80066602	GM12891	blood:	n/a	n/a
5	BRCA1	chrX:80065162-80066315	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chrX:80063571-80066374	Raji	blood:	n/a	n/a
7	POLR2A	chrX:80065233-80066048	PFSK-1	brain:	n/a	n/a
8	BHLHE40	chrX:80065452-80066181	HepG2	liver:	n/a	n/a
9	MAX	chrX:80065077-80066379	Hela-S3	cervix:	n/a	chrX:80066025-80066032 chrX:80066025-80066034 chrX:80065386-80065396
10	POLR2A	chrX:80065400-80067233	MCF10A-Er-Src	breast:	n/a	n/a
11	TBP	chrX:80065405-80066038	HepG2	liver:	n/a	n/a
12	CEBPB	chrX:80065324-80066674	Hela-S3	cervix:	n/a	n/a
13	JUND	chrX:80065122-80066056	K562	blood:	n/a	n/a
14	STAT1	chrX:80065339-80066089	GM12878	blood:	n/a	chrX:80065822-80065834 chrX:80065624-80065635
15	POLR2A	chrX:80065410-80066032	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chrX:80065867-80066103	HepG2	liver:	n/a	chrX:80066025-80066032 chrX:80066025-80066034
17	MAX	chrX:80065340-80066113	K562	blood:	n/a	chrX:80066025-80066032 chrX:80066025-80066034 chrX:80065386-80065396
18	MYC	chrX:80064935-80066319	Hela-S3	cervix:	n/a	chrX:80066025-80066032 chrX:80066025-80066034 chrX:80065386-80065396
19	GTF2F1	chrX:80065195-80066467	Hela-S3	cervix:	n/a	n/a
20	RCOR1	chrX:80065117-80066513	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chrX:80065484-80066038	U87	brain:	n/a	n/a
22	POLR2A	chrX:80065430-80066069	HepG2	liver:	n/a	n/a
23	POLR2A	chrX:80063114-80066752	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chrX:80065153-80066073	GM12878	blood:	n/a	n/a
25	REST	chrX:80063425-80066037	H1-neurons	neurons:	n/a	chrX:80065537-80065550
26	MXI1	chrX:80065332-80066105	GM12878	blood:	n/a	n/a
27	MAZ	chrX:80064665-80066013	IMR90	lung:	n/a	chrX:80065386-80065396 chrX:80064679-80064689
28	MYC	chrX:80065149-80066282	NB4	blood:	n/a	chrX:80066025-80066032 chrX:80066025-80066034 chrX:80065386-80065396
29	SIN3A	chrX:80065150-80066274	H1-hESC	embryonic stem cell:	n/a	n/a
30	MYC	chrX:80065405-80066397	MCF10A-Er-Src	breast:	n/a	chrX:80066025-80066032 chrX:80066025-80066034
31	MAX	chrX:80065195-80066329	A549	lung:	n/a	chrX:80066025-80066032 chrX:80066025-80066034 chrX:80065386-80065396
32	MYC	chrX:80065847-80066157	Hela-S3	cervix:	n/a	chrX:80066025-80066032 chrX:80066025-80066034
33	EP300	chrX:80065431-80066202	GM12878	blood:	n/a	n/a
34	POLR2A	chrX:80065057-80066229	GM18505	blood:	n/a	n/a
35	TBP	chrX:80065185-80066389	Hela-S3	cervix:	n/a	n/a
36	HCFC1	chrX:80064915-80066660	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chrX:80065022-80066039	SK-N-MC	brain:	n/a	n/a
38	TBP	chrX:80065130-80066064	K562	blood:	n/a	n/a
39	IRF1	chrX:80065367-80066269	K562	blood:	n/a	chrX:80065621-80065635 chrX:80065385-80065399
40	MAX	chrX:80065335-80066211	SK-N-SH	brain:	n/a	chrX:80066025-80066032 chrX:80066025-80066034 chrX:80065386-80065396
41	MAFK	chrX:80065127-80066601	Hela-S3	cervix:	n/a	n/a
42	EP300	chrX:80065450-80066434	Hela-S3	cervix:	n/a	n/a
43	MAX	chrX:80065842-80066221	H1-hESC	embryonic stem cell:	n/a	chrX:80066025-80066032 chrX:80066025-80066034
44	GATA1	chrX:80065062-80066643	PBDE	blood:	n/a	chrX:80065628-80065638 chrX:80066625-80066634 chrX:80065429-80065438
45	CHD2	chrX:80065103-80066316	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chrX:80065933-80066042	MCF-7	breast:	n/a	n/a
47	POLR2A	chrX:80065444-80066026	IMR90	lung:	n/a	n/a
48	GABPA	chrX:80065350-80066106	MCF-7	breast:	n/a	chrX:80065386-80065395
49	USF2	chrX:80065362-80066317	Hela-S3	cervix:	n/a	n/a
50	GATA3	chrX:80065897-80066201	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:85765978..85766680-chrX:80065260..80066141,2	NB4	blood:

Variant related genes	Relation type
BRWD3	TF binding region
ENSG00000168906	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4826027	0.84[CEU][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	nsv916218	chrX:79377399-80230929	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv33127	chrX:79989618-80370141	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:80062000-80066600	Active TSS	GM12878-XiMat	blood
2	chrX:80062400-80066200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chrX:80062400-80066600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chrX:80062600-80066600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chrX:80062600-80066600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chrX:80062600-80066600	Active TSS	HMEC	breast
7	chrX:80062600-80066600	Active TSS	K562	blood
8	chrX:80062600-80066800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chrX:80062800-80066200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chrX:80062800-80066400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chrX:80062800-80066400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chrX:80062800-80066400	Active TSS	A549	lung
13	chrX:80062800-80066600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chrX:80062800-80066600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chrX:80062800-80066600	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chrX:80062800-80066600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chrX:80062800-80066600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chrX:80063000-80066200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chrX:80063000-80066200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chrX:80063000-80066200	Active TSS	Primary T cells fromperipheralblood	blood
21	chrX:80063000-80066200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chrX:80063000-80066200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chrX:80063000-80066200	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chrX:80063000-80066200	Active TSS	Cortex derived primary cultured neurospheres	brain
25	chrX:80063000-80066200	Active TSS	Adipose Nuclei	Adipose
26	chrX:80063000-80066200	Active TSS	Aorta	Aorta
27	chrX:80063000-80066200	Active TSS	Brain Angular Gyrus	brain
28	chrX:80063000-80066200	Active TSS	Brain Anterior Caudate	brain
29	chrX:80063000-80066200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chrX:80063000-80066200	Active TSS	Fetal Brain Female	brain
31	chrX:80063000-80066200	Active TSS	Fetal Thymus	thymus
32	chrX:80063000-80066200	Active TSS	Ovary	ovary
33	chrX:80063000-80066200	Active TSS	Thymus	Thymus
34	chrX:80063000-80066200	Active TSS	Hela-S3	cervix
35	chrX:80063000-80066200	Active TSS	NH-A	brain
36	chrX:80063000-80066400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chrX:80063000-80066400	Active TSS	H9 Cell Line	embryonic stem cell
38	chrX:80063000-80066400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chrX:80063000-80066400	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chrX:80063000-80066400	Active TSS	Muscle Satellite Cultured Cells	--
41	chrX:80063000-80066400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chrX:80063000-80066400	Active TSS	Brain Cingulate Gyrus	brain
43	chrX:80063000-80066400	Active TSS	Brain Inferior Temporal Lobe	brain
44	chrX:80063000-80066400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chrX:80063000-80066400	Active TSS	Colonic Mucosa	Colon
46	chrX:80063000-80066400	Active TSS	Colon Smooth Muscle	Colon
47	chrX:80063000-80066400	Active TSS	Duodenum Mucosa	Duodenum
48	chrX:80063000-80066400	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chrX:80063000-80066400	Active TSS	Fetal Intestine Large	intestine
50	chrX:80063000-80066400	Active TSS	Fetal Intestine Small	intestine

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