Variant report

Variant	rs372975735
Chromosome Location	chrX:138287070-138287071
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:138285442-138287746	MCF-7	breast:	n/a	n/a
2	POLR2A	chrX:138286984-138287812	K562	blood:	n/a	n/a
3	MAX	chrX:138286936-138287448	A549	lung:	n/a	chrX:138287236-138287246 chrX:138287130-138287140
4	POLR2A	chrX:138286974-138287434	K562	blood:	n/a	n/a
5	HEY1	chrX:138286983-138287313	K562	blood:	n/a	n/a
6	MAX	chrX:138286571-138287676	K562	blood:	n/a	chrX:138287236-138287246 chrX:138286585-138286595 chrX:138287130-138287140
7	POLR2A	chrX:138286804-138287631	MCF-7	breast:	n/a	n/a
8	TBP	chrX:138286883-138287766	K562	blood:	n/a	n/a
9	POLR2A	chrX:138286980-138287802	K562	blood:	n/a	n/a
10	POLR2A	chrX:138286870-138287466	H1-neurons	neurons:	n/a	n/a
11	E2F6	chrX:138287029-138287552	K562	blood:	n/a	n/a
12	REST	chrX:138285098-138287705	H1-neurons	neurons:	n/a	chrX:138285921-138285934 chrX:138287111-138287131 chrX:138287233-138287246 chrX:138285181-138285194 chrX:138285745-138285758 chrX:138285179-138285189
13	SIN3A	chrX:138287059-138287648	H1-hESC	embryonic stem cell:	n/a	chrX:138287341-138287354
14	MAZ	chrX:138286974-138287934	K562	blood:	n/a	chrX:138287236-138287246 chrX:138287130-138287140
15	MYC	chrX:138286968-138287382	K562	blood:	n/a	chrX:138287236-138287246 chrX:138287130-138287140
16	MAX	chrX:138287026-138287259	H1-hESC	embryonic stem cell:	n/a	chrX:138287236-138287246 chrX:138287130-138287140
17	MAX	chrX:138287002-138287445	H1-hESC	embryonic stem cell:	n/a	chrX:138287236-138287246 chrX:138287130-138287140
18	MYC	chrX:138286715-138287837	K562	blood:	n/a	chrX:138287236-138287246 chrX:138287130-138287140
19	RCOR1	chrX:138287023-138287254	K562	blood:	n/a	n/a
20	RAD21	chrX:138287045-138287439	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chrX:138287055-138287333	K562	blood:	n/a	chrX:138287236-138287246 chrX:138287130-138287140
22	POLR2A	chrX:138287038-138287151	ProgFib	skin:	n/a	n/a
23	UBTF	chrX:138287027-138287835	K562	blood:	n/a	n/a
24	POLR2A	chrX:138285873-138287837	K562	blood:	n/a	n/a
25	POLR2A	chrX:138286878-138287481	U87	brain:	n/a	n/a
26	POLR2A	chrX:138285798-138287834	K562	blood:	n/a	n/a
27	E2F6	chrX:138287039-138287399	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chrX:138286563-138287950	K562	blood:	n/a	n/a
29	MAX	chrX:138286937-138287430	ECC-1	luminal epithelium:	n/a	chrX:138287236-138287246 chrX:138287130-138287140
30	POLR2A	chrX:138286912-138287233	K562	blood:	n/a	n/a
31	CBX3	chrX:138287013-138287401	K562	blood:	n/a	n/a
32	POLR2A	chrX:138287011-138287333	K562	blood:	n/a	n/a
33	E2F6	chrX:138287060-138287608	K562	blood:	n/a	n/a
34	POLR2A	chrX:138286973-138287544	MCF10A-Er-Src	breast:	n/a	n/a
35	MAX	chrX:138287025-138287440	H1-hESC	embryonic stem cell:	n/a	chrX:138287236-138287246 chrX:138287130-138287140
36	E2F6	chrX:138286947-138287503	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chrX:138287060-138287210	HEEpiC	esophagus:	n/a	n/a
38	POLR2A	chrX:138286901-138287440	MCF-7	breast:	n/a	n/a
39	TAF1	chrX:138287007-138287356	K562	blood:	n/a	n/a
40	CCNT2	chrX:138287009-138287448	K562	blood:	n/a	n/a
41	HEY1	chrX:138286996-138287732	K562	blood:	n/a	n/a
42	POLR2A	chrX:138286892-138287720	K562	blood:	n/a	n/a
43	POLR2A	chrX:138286869-138287472	H1-neurons	neurons:	n/a	n/a
44	MAX	chrX:138287048-138287461	ECC-1	luminal epithelium:	n/a	chrX:138287236-138287246 chrX:138287130-138287140
45	POLR2A	chrX:138286878-138287605	U87	brain:	n/a	n/a
46	JUND	chrX:138287057-138287763	K562	blood:	n/a	n/a
47	POLR2A	chrX:138286935-138287482	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chrX:138286962-138287599	MCF10A-Er-Src	breast:	n/a	n/a
49	MAX	chrX:138287057-138287422	K562	blood:	n/a	chrX:138287236-138287246 chrX:138287130-138287140

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:138287039-138287089	K562	blood:	n/a
2	chrX:138287039-138287089	H1-hESC	embryonic stem cell:	embryo
3	chrX:138287039-138287089	HCM	heart:	n/a
4	chrX:138287039-138287089	HepG2	liver:	n/a
5	chrX:138287039-138287089	AoSMC	blood vessel:	n/a
6	chrX:138287039-138287089	A549	lung:	n/a
7	chrX:138287039-138287089	ovcar-3	ovarian:	n/a
8	chrX:138287039-138287089	ProgFib	skin:	n/a
9	chrX:138287039-138287089	HAEpiC	amniotic membrane:	n/a
10	chrX:138287039-138287089	HCF	heart:	n/a
11	chrX:138287039-138287089	NB4	blood:	n/a
12	chrX:138287039-138287089	Hepatocyte	liver:	n/a
13	chrX:138287039-138287089	SK-N-MC	brain:	n/a
14	chrX:138287039-138287089	HEEpiC	esophagus:	n/a
15	chrX:138287039-138287089	SAEC	small airway:	n/a
16	chrX:138287039-138287089	HCT-116	colon:	n/a
17	chrX:138287039-138287089	Jurkat	blood:	n/a
18	chrX:138287039-138287089	AG09309	skin:	n/a
19	chrX:138287039-138287089	GM12891	blood:	n/a
20	chrX:138287039-138287089	BE2_C	brain:	n/a
21	chrX:138287039-138287089	LNCaP	prostate:	n/a
22	chrX:138287039-138287089	MCF10A-Er-Src	breast:	n/a
23	chrX:138287039-138287089	NHBE	bronchial:	n/a
24	chrX:138287039-138287089	SK-N-SH	brain:	n/a
25	chrX:138287039-138287089	U87	brain:	n/a
26	chrX:138287039-138287089	BJ	skin:	n/a
27	chrX:138287039-138287089	T-47D	breast:	n/a
28	chrX:138287039-138287089	PANC-1	pancreas:	n/a
29	chrX:138287039-138287089	HNPCEpiC	eye:	n/a
30	chrX:138287039-138287089	HEK293	kidney:	embryo
31	chrX:138287039-138287089	GM12878	blood:	n/a
32	chrX:138287039-138287089	HL-60	blood:	n/a
33	chrX:138287039-138287089	HUVEC	blood vessel:	n/a
34	chrX:138287039-138287089	SKMC	muscle:	n/a
35	chrX:138287039-138287089	HMEC	breast:	n/a
36	chrX:138287039-138287089	NT2-D1	testis:	n/a
37	chrX:138287039-138287089	SK-N-SH_RA	brain:	n/a
38	chrX:138287039-138287089	GM06990	blood:	n/a
39	chrX:138287039-138287089	AG04450	lung:	fetal
40	chrX:138287039-138287089	RPTEC	kidney:	n/a
41	chrX:138287039-138287089	AG09319	gingival:	n/a
42	chrX:138287039-138287089	HRCEpiC	kidney:	n/a
43	chrX:138287039-138287089	Caco-2	colon:	n/a
44	chrX:138287039-138287089	HRE	kidney:	n/a
45	chrX:138287039-138287089	CMK	blood:	n/a
46	chrX:138287039-138287089	HRPEpiC	eye:	n/a
47	chrX:138287039-138287089	NH-A	brain:	n/a
48	chrX:138287039-138287089	MCF-7	breast:	n/a
49	chrX:138287039-138287089	PFSK-1	brain:	n/a
50	chrX:138287039-138287089	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:138285411..138288031-chrX:138303226..138305707,3	K562	blood:

Variant related genes	Relation type
FGF13	TF binding region
FGF13	CpG island
ENSG00000129682	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525867	chrX:137580983-138439843	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv533984	chrX:137938683-138556308	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv532935	chrX:138281469-138764448	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3346694	chrX:138283686-138289084	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:138283000-138288600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chrX:138284400-138287800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chrX:138284400-138288400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chrX:138284600-138287800	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chrX:138284600-138288000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
6	chrX:138284600-138288200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chrX:138284600-138288600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chrX:138284600-138288800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chrX:138284600-138288800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chrX:138284800-138287800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chrX:138284800-138287800	Active TSS	K562	blood
12	chrX:138284800-138288000	Active TSS	Psoas Muscle	Psoas
13	chrX:138284800-138288400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chrX:138284800-138288600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chrX:138285000-138287400	Active TSS	NH-A	brain
16	chrX:138285000-138287800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chrX:138285200-138287600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
18	chrX:138285200-138287800	Active TSS	Brain Anterior Caudate	brain
19	chrX:138285200-138287800	Active TSS	Brain Germinal Matrix	brain
20	chrX:138285200-138288000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chrX:138285200-138288400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chrX:138285200-138288600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
23	chrX:138285400-138287600	Active TSS	Esophagus	oesophagus
24	chrX:138285400-138287600	Active TSS	Gastric	stomach
25	chrX:138285400-138287800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chrX:138285400-138288000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chrX:138285400-138288000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chrX:138285400-138288000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
29	chrX:138285400-138288000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
30	chrX:138285400-138288000	Active TSS	Ovary	ovary
31	chrX:138285400-138288000	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chrX:138285600-138287800	Bivalent/Poised TSS	Fetal Stomach	stomach
33	chrX:138285600-138288000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chrX:138285600-138288000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chrX:138285600-138288000	Active TSS	Right Ventricle	heart
36	chrX:138285800-138287200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chrX:138285800-138287200	Flanking Active TSS	Liver	Liver
38	chrX:138285800-138287400	Active TSS	Muscle Satellite Cultured Cells	--
39	chrX:138285800-138287400	Bivalent/Poised TSS	NHEK	skin
40	chrX:138285800-138287800	Active TSS	Primary neutrophils fromperipheralblood	blood
41	chrX:138285800-138287800	Active TSS	Brain Angular Gyrus	brain
42	chrX:138285800-138287800	Active TSS	Brain Substantia Nigra	brain
43	chrX:138285800-138287800	Active TSS	Duodenum Mucosa	Duodenum
44	chrX:138285800-138287800	Active TSS	HSMMtube	muscle
45	chrX:138285800-138288000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chrX:138285800-138288000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
47	chrX:138285800-138288000	Active TSS	HSMM	muscle
48	chrX:138285800-138288000	Active TSS	NHDF-Ad	bronchial
49	chrX:138286000-138287600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chrX:138286000-138287600	Active TSS	NHLF	lung

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