Variant report

Variant	rs372783829
Chromosome Location	chrX:57148308-57148309
allele	C/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	chrX:57147698-57148322	K562	blood:	n/a	n/a
2	POLR2A	chrX:57147690-57148326	HepG2	liver:	n/a	n/a
3	POLR2A	chrX:57147487-57148352	GM19193	blood:	n/a	n/a
4	POLR2A	chrX:57147608-57148346	GM18505	blood:	n/a	n/a
5	POLR2A	chrX:57147584-57148348	GM12892	blood:	n/a	n/a
6	POLR2A	chrX:57147526-57148311	HEK293	kidney:	n/a	n/a
7	POLR2A	chrX:57147479-57148325	SK-N-MC	brain:	n/a	n/a
8	MAFK	chrX:57148302-57148601	IMR90	lung:	n/a	chrX:57148434-57148445 chrX:57148434-57148450 chrX:57148434-57148445 chrX:57148434-57148449 chrX:57148435-57148446 chrX:57148433-57148447
9	TBP	chrX:57147593-57148328	H1-hESC	embryonic stem cell:	n/a	n/a
10	MXI1	chrX:57147235-57148899	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chrX:57147679-57148328	GM12878	blood:	n/a	n/a
12	POLR2A	chrX:57147531-57148397	GM12892	blood:	n/a	n/a
13	POLR2A	chrX:57147578-57148361	HepG2	liver:	n/a	n/a
14	YY1	chrX:57148279-57148502	SK-N-SH_RA	brain:	n/a	chrX:57148406-57148416 chrX:57148409-57148417
15	POLR2A	chrX:57147463-57148422	MCF-7	breast:	n/a	n/a
16	POLR2A	chrX:57147326-57148368	Gliobla	brain:	n/a	n/a
17	POLR2A	chrX:57147373-57148389	NB4	blood:	n/a	n/a
18	POLR2A	chrX:57147673-57148367	H1-neurons	neurons:	n/a	n/a
19	MAFK	chrX:57148281-57148619	HepG2	liver:	n/a	chrX:57148434-57148445 chrX:57148434-57148450 chrX:57148434-57148445 chrX:57148434-57148449 chrX:57148435-57148446 chrX:57148433-57148447
20	POLR2A	chrX:57147338-57148475	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chrX:57147363-57148353	ProgFib	skin:	n/a	n/a
22	GABPA	chrX:57147703-57148320	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chrX:57147457-57148316	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chrX:57147155-57148340	MCF-7	breast:	n/a	n/a
25	POLR2A	chrX:57147539-57148332	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chrX:57147392-57148497	GM12891	blood:	n/a	n/a
27	MAFK	chrX:57148288-57148574	HepG2	liver:	n/a	chrX:57148434-57148445 chrX:57148434-57148450 chrX:57148434-57148445 chrX:57148434-57148449 chrX:57148435-57148446 chrX:57148433-57148447
28	MAFK	chrX:57147825-57148662	Hela-S3	cervix:	n/a	chrX:57148434-57148445 chrX:57148434-57148450 chrX:57148434-57148445 chrX:57148434-57148449 chrX:57148435-57148446 chrX:57148433-57148447
29	TBP	chrX:57147690-57148324	K562	blood:	n/a	n/a
30	POLR2A	chrX:57147462-57148353	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chrX:57147543-57148374	K562	blood:	n/a	n/a
32	RCOR1	chrX:57147621-57148335	IMR90	lung:	n/a	n/a
33	POLR2A	chrX:57147564-57148357	GM19099	blood:	n/a	n/a
34	POLR2A	chrX:57147685-57148356	K562	blood:	n/a	n/a
35	POLR2A	chrX:57147632-57148412	HL-60	blood:	n/a	n/a
36	POLR2A	chrX:57147380-57148338	GM18526	blood:	n/a	n/a
37	POLR2A	chrX:57147230-57148360	MCF-7	breast:	n/a	n/a
38	POLR2A	chrX:57146613-57148446	HepG2	liver:	n/a	n/a
39	POLR2A	chrX:57147040-57148393	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chrX:57147460-57148374	K562	blood:	n/a	n/a
41	MAFF	chrX:57148274-57148615	HepG2	liver:	n/a	chrX:57148432-57148450
42	POLR2A	chrX:57147355-57148344	PFSK-1	brain:	n/a	n/a
43	GTF2F1	chrX:57147817-57148508	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chrX:57147580-57148381	GM15510	blood:	n/a	n/a
45	REST	chrX:57147429-57148527	H1-neurons	neurons:	n/a	chrX:57147439-57147448
46	POLR2A	chrX:57147679-57148356	Raji	blood:	n/a	n/a
47	POLR2A	chrX:57147645-57148347	GM18951	blood:	n/a	n/a
48	POLR2A	chrX:57147604-57148357	GM12878	blood:	n/a	n/a
49	TCF12	chrX:57147551-57148319	A549	lung:	n/a	n/a
50	TBP	chrX:57147803-57148822	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:200638588..200639361-chrX:57147651..57148365,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAAH2-2	chrX:57148095-57148400	XLOC_007996
2	lnc-FAAH2-2	chrX:57148042-57148400	NONHSAT137282

Variant related genes	Relation type
SPIN2B	TF binding region
ENSG00000118197	Chromatin interaction
ENSG00000260088	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	esv3391838	chrX:57144560-57160412	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3347206	chrX:57147222-57159535	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:57147200-57148400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chrX:57147200-57148400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chrX:57147200-57148400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chrX:57147200-57148400	Active TSS	H9 Cell Line	embryonic stem cell
5	chrX:57147200-57148400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chrX:57147200-57148400	Active TSS	Primary monocytes fromperipheralblood	blood
7	chrX:57147200-57148400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chrX:57147200-57148400	Active TSS	Colonic Mucosa	Colon
9	chrX:57147200-57148400	Active TSS	Esophagus	oesophagus
10	chrX:57147200-57148400	Active TSS	Left Ventricle	heart
11	chrX:57147200-57148400	Active TSS	Pancreas	Pancrea
12	chrX:57147200-57148600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chrX:57147200-57148600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chrX:57147200-57148600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chrX:57147200-57148600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chrX:57147200-57148600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chrX:57147200-57148600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chrX:57147200-57148600	Active TSS	Adipose Nuclei	Adipose
19	chrX:57147200-57148600	Active TSS	Brain Angular Gyrus	brain
20	chrX:57147200-57148600	Active TSS	Brain Anterior Caudate	brain
21	chrX:57147200-57148600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chrX:57147200-57148600	Active TSS	Brain Substantia Nigra	brain
23	chrX:57147200-57148600	Active TSS	Fetal Intestine Large	intestine
24	chrX:57147200-57148600	Active TSS	Ovary	ovary
25	chrX:57147200-57148600	Active TSS	Rectal Mucosa Donor 31	rectum
26	chrX:57147200-57148600	Active TSS	Rectal Smooth Muscle	rectum
27	chrX:57147200-57148600	Active TSS	Right Ventricle	heart
28	chrX:57147200-57148600	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chrX:57147200-57148600	Active TSS	Thymus	Thymus
30	chrX:57147200-57148600	Active TSS	HSMMtube	muscle
31	chrX:57147200-57148600	Active TSS	HUVEC	blood vessel
32	chrX:57147200-57148600	Active TSS	Monocytes-CD14+_RO01746	blood
33	chrX:57147200-57148600	Active TSS	NHLF	lung
34	chrX:57147200-57148800	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chrX:57147200-57148800	Active TSS	H1 Cell Line	embryonic stem cell
36	chrX:57147200-57148800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chrX:57147200-57148800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chrX:57147200-57148800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chrX:57147200-57148800	Active TSS	Liver	Liver
40	chrX:57147200-57148800	Active TSS	Brain Cingulate Gyrus	brain
41	chrX:57147200-57148800	Active TSS	Brain Germinal Matrix	brain
42	chrX:57147200-57148800	Active TSS	Brain Hippocampus Middle	brain
43	chrX:57147200-57148800	Active TSS	Brain Inferior Temporal Lobe	brain
44	chrX:57147200-57148800	Active TSS	Duodenum Mucosa	Duodenum
45	chrX:57147200-57148800	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chrX:57147200-57148800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chrX:57147200-57148800	Active TSS	Fetal Intestine Small	intestine
48	chrX:57147200-57148800	Active TSS	Fetal Kidney	kidney
49	chrX:57147200-57148800	Active TSS	Fetal Thymus	thymus
50	chrX:57147200-57148800	Active TSS	Rectal Mucosa Donor 29	rectum

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