Variant report

Variant	rs5938090
Chromosome Location	chrX:74743007-74743008
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	chrX:74742814-74743202	GM12878	blood:	n/a	n/a
2	MAX	chrX:74742459-74743152	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chrX:74742758-74743208	ECC-1	luminal epithelium:	n/a	n/a
4	STAT1	chrX:74742887-74743032	GM12878	blood:	n/a	n/a
5	CTCF	chrX:74742880-74743030	HAc	cerebellar:	n/a	n/a
6	CTCF	chrX:74742847-74743089	GM12878	blood:	n/a	n/a
7	RAD21	chrX:74742629-74743221	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chrX:74742469-74743277	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chrX:74742565-74743653	H1-neurons	neurons:	n/a	n/a
10	WRNIP1	chrX:74743005-74743205	GM12878	blood:	n/a	n/a
11	POLR2A	chrX:74742894-74743174	GM12878	blood:	n/a	n/a
12	EBF1	chrX:74742768-74743177	GM12878	blood:	n/a	n/a
13	BHLHE40	chrX:74742772-74743022	GM12878	blood:	n/a	n/a
14	POLR2A	chrX:74742929-74743205	H1-hESC	embryonic stem cell:	n/a	n/a
15	CUX1	chrX:74742728-74743065	GM12878	blood:	n/a	n/a
16	ZNF143	chrX:74742722-74743123	GM12878	blood:	n/a	n/a
17	SRF	chrX:74742718-74743027	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chrX:74742874-74743304	ProgFib	skin:	n/a	n/a
19	E2F6	chrX:74742650-74743239	H1-hESC	embryonic stem cell:	n/a	chrX:74742890-74742900 chrX:74742861-74742876
20	POLR2A	chrX:74742820-74743183	GM12878	blood:	n/a	n/a
21	MAX	chrX:74742694-74743221	ECC-1	luminal epithelium:	n/a	n/a
22	USF2	chrX:74742973-74743057	GM12878	blood:	n/a	n/a
23	RAD21	chrX:74742654-74743535	H1-hESC	embryonic stem cell:	n/a	n/a
24	ZNF143	chrX:74742634-74743534	H1-hESC	embryonic stem cell:	n/a	n/a
25	TBP	chrX:74742756-74743210	GM12878	blood:	n/a	n/a
26	EP300	chrX:74742829-74743177	GM12878	blood:	n/a	n/a
27	RCOR1	chrX:74742791-74743040	GM12878	blood:	n/a	n/a
28	MAX	chrX:74742835-74743158	GM12878	blood:	n/a	n/a
29	YY1	chrX:74742723-74743216	H1-hESC	embryonic stem cell:	n/a	chrX:74742880-74742900 chrX:74743004-74743015 chrX:74743069-74743077
30	MAX	chrX:74742637-74743237	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chrX:74742271-74743666	H1-hESC	embryonic stem cell:	n/a	n/a
32	TAF1	chrX:74742673-74743247	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chrX:74742751-74743140	GM12878	blood:	n/a	n/a
34	CTCF	chrX:74742860-74743010	SK-N-SH_RA	brain:	n/a	n/a
35	SIN3A	chrX:74742389-74743551	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chrX:74742738-74743047	GM12878	blood:	n/a	n/a
37	BACH1	chrX:74742381-74743136	H1-hESC	embryonic stem cell:	n/a	n/a
38	TBP	chrX:74742689-74743592	H1-hESC	embryonic stem cell:	n/a	n/a
39	E2F6	chrX:74742772-74743194	H1-hESC	embryonic stem cell:	n/a	chrX:74742890-74742900 chrX:74742861-74742876
40	SRF	chrX:74742780-74743158	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chrX:74742680-74743249	H1-hESC	embryonic stem cell:	n/a	n/a
42	PAX5	chrX:74742743-74743054	GM12878	blood:	n/a	n/a
43	MAX	chrX:74742711-74743610	H1-hESC	embryonic stem cell:	n/a	chrX:74743317-74743327
44	MXI1	chrX:74742173-74744081	SK-N-SH	brain:	n/a	n/a
45	EBF1	chrX:74741419-74743057	GM12878	blood:	n/a	chrX:74742597-74742606 chrX:74742595-74742606
46	YY1	chrX:74742699-74743096	SK-N-SH_RA	brain:	n/a	chrX:74742880-74742900 chrX:74743004-74743015 chrX:74743069-74743077
47	SRF	chrX:74742791-74743174	ECC-1	luminal epithelium:	n/a	n/a
48	YY1	chrX:74742710-74743085	GM12878	blood:	n/a	chrX:74742880-74742900 chrX:74743004-74743015 chrX:74743069-74743077
49	TAF1	chrX:74742649-74743620	H1-neurons	neurons:	n/a	n/a
50	YY1	chrX:74742744-74743031	SK-N-SH_RA	brain:	n/a	chrX:74742880-74742900 chrX:74743004-74743015

Variant related genes	Relation type
ZDHHC15	TF binding region

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

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

rs_ID	r²[population]
rs7052066	0.82[YRI][hapmap]

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	nsv534539	chrX:74669627-75200415	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:74741400-74744000	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chrX:74741400-74744000	Active TSS	Fetal Kidney	kidney
3	chrX:74741400-74745000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chrX:74741600-74743800	Active TSS	Right Atrium	heart
5	chrX:74741600-74744000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chrX:74741800-74743600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chrX:74741800-74743800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chrX:74741800-74743800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chrX:74741800-74743800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chrX:74741800-74743800	Active TSS	Right Ventricle	heart
11	chrX:74741800-74744000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chrX:74741800-74744000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chrX:74741800-74744000	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chrX:74741800-74744000	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chrX:74741800-74744200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chrX:74741800-74744200	Active TSS	Brain Inferior Temporal Lobe	brain
17	chrX:74741800-74745000	Active TSS	Brain Germinal Matrix	brain
18	chrX:74742000-74743400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
19	chrX:74742000-74743600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chrX:74742000-74743600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chrX:74742000-74743600	Active TSS	Psoas Muscle	Psoas
22	chrX:74742000-74743800	Active TSS	H1 Cell Line	embryonic stem cell
23	chrX:74742000-74743800	Active TSS	H9 Cell Line	embryonic stem cell
24	chrX:74742000-74743800	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chrX:74742000-74743800	Active TSS	Brain Angular Gyrus	brain
26	chrX:74742000-74743800	Active TSS	Colon Smooth Muscle	Colon
27	chrX:74742000-74743800	Active TSS	Fetal Intestine Small	intestine
28	chrX:74742000-74743800	Active TSS	Fetal Muscle Leg	muscle
29	chrX:74742000-74744000	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chrX:74742000-74744000	Active TSS	Cortex derived primary cultured neurospheres	brain
31	chrX:74742000-74744000	Active TSS	Brain Anterior Caudate	brain
32	chrX:74742000-74744000	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chrX:74742000-74744000	Active TSS	Fetal Lung	lung
34	chrX:74742000-74744000	Active TSS	Fetal Stomach	stomach
35	chrX:74742000-74744200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chrX:74742000-74745000	Active TSS	Fetal Brain Male	brain
37	chrX:74742200-74743600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chrX:74742200-74743600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chrX:74742200-74743600	Active TSS	Muscle Satellite Cultured Cells	--
40	chrX:74742200-74743600	Active TSS	Esophagus	oesophagus
41	chrX:74742200-74743600	Active TSS	Left Ventricle	heart
42	chrX:74742200-74743600	Active TSS	Rectal Smooth Muscle	rectum
43	chrX:74742200-74743800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chrX:74742200-74743800	Active TSS	Primary hematopoietic stem cells	blood
45	chrX:74742200-74743800	Active TSS	Brain Cingulate Gyrus	brain
46	chrX:74742200-74743800	Active TSS	Brain Substantia Nigra	brain
47	chrX:74742200-74743800	Active TSS	Ovary	ovary
48	chrX:74742200-74743800	Active TSS	Rectal Mucosa Donor 29	rectum
49	chrX:74742200-74744000	Active TSS	Fetal Intestine Large	intestine
50	chrX:74742200-74744000	Active TSS	NH-A	brain

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