Variant report

Variant	rs371499385
Chromosome Location	chrX:55478361-55478362
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	SPI1	chrX:55478357-55478632	HL-60	blood:	n/a	chrX:55478512-55478525 chrX:55478511-55478524 chrX:55478514-55478521 chrX:55478513-55478522
2	TCF12	chrX:55478133-55478867	A549	lung:	n/a	chrX:55478627-55478634
3	POLR2A	chrX:55478331-55478855	Gliobla	brain:	n/a	n/a
4	NRF1	chrX:55478219-55478916	SK-N-SH	brain:	n/a	n/a
5	ELF1	chrX:55478206-55478820	MCF-7	breast:	n/a	chrX:55478511-55478524 chrX:55478481-55478494
6	GABPA	chrX:55478115-55478795	A549	lung:	n/a	n/a
7	SIN3A	chrX:55478320-55479213	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAZ	chrX:55478234-55478897	GM12878	blood:	n/a	n/a
9	POLR2A	chrX:55478343-55478818	GM10847	blood:	n/a	n/a
10	MAX	chrX:55478281-55478785	GM12878	blood:	n/a	n/a
11	POLR2A	chrX:55478246-55478949	GM15510	blood:	n/a	n/a
12	POLR2A	chrX:55477835-55478928	GM12891	blood:	n/a	n/a
13	POLR2A	chrX:55478228-55479480	GM18951	blood:	n/a	n/a
14	IRF1	chrX:55478298-55478668	K562	blood:	n/a	chrX:55478547-55478561
15	RAD21	chrX:55478286-55478845	IMR90	lung:	n/a	n/a
16	E2F6	chrX:55478182-55478362	K562	blood:	n/a	chrX:55478241-55478253
17	POLR2A	chrX:55478271-55478846	K562	blood:	n/a	n/a
18	MXI1	chrX:55477609-55479655	SK-N-SH	brain:	n/a	n/a
19	ELF1	chrX:55478274-55478650	K562	blood:	n/a	chrX:55478511-55478524 chrX:55478481-55478494
20	EBF1	chrX:55478353-55478555	GM12878	blood:	n/a	n/a
21	JUND	chrX:55478356-55478785	K562	blood:	n/a	n/a
22	CBX3	chrX:55478345-55478660	K562	blood:	n/a	n/a
23	SIN3AK20	chrX:55478340-55478881	MCF-7	breast:	n/a	n/a
24	SPI1	chrX:55478209-55478687	GM12878	blood:	n/a	chrX:55478512-55478525 chrX:55478511-55478524 chrX:55478514-55478521 chrX:55478513-55478522
25	MAX	chrX:55478280-55478930	K562	blood:	n/a	n/a
26	POLR2A	chrX:55478359-55478767	GM12878	blood:	n/a	n/a
27	POLR2A	chrX:55477942-55479233	GM12892	blood:	n/a	n/a
28	MYC	chrX:55478197-55478789	K562	blood:	n/a	n/a
29	POLR2A	chrX:55478081-55478929	H1-neurons	neurons:	n/a	n/a
30	POLR2A	chrX:55478299-55478783	PFSK-1	brain:	n/a	n/a
31	EP300	chrX:55478253-55478644	K562	blood:	n/a	chrX:55478513-55478522
32	TAF1	chrX:55478336-55478688	GM12878	blood:	n/a	n/a
33	POLR2A	chrX:55478335-55478686	HUVEC	blood vessel:	n/a	n/a
34	HA-E2F1	chrX:55478087-55479480	MCF-7	breast:	n/a	chrX:55478606-55478616 chrX:55478241-55478253
35	TAF1	chrX:55478353-55478693	PFSK-1	brain:	n/a	n/a
36	POLR2A	chrX:55478212-55478933	SK-N-MC	brain:	n/a	n/a
37	ELF1	chrX:55478210-55478760	GM12878	blood:	n/a	chrX:55478511-55478524 chrX:55478481-55478494
38	HCFC1	chrX:55478268-55478596	K562	blood:	n/a	n/a
39	SETDB1	chrX:55478283-55479048	U2OS	brain:	n/a	n/a
40	GABPA	chrX:55478177-55478786	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chrX:55478268-55478814	K562	blood:	n/a	n/a
42	MAX	chrX:55478257-55478866	HepG2	liver:	n/a	n/a
43	RCOR1	chrX:55478310-55478772	K562	blood:	n/a	n/a
44	ELF1	chrX:55478253-55478715	K562	blood:	n/a	chrX:55478511-55478524 chrX:55478481-55478494
45	MAX	chrX:55478095-55479082	A549	lung:	n/a	n/a
46	POLR2A	chrX:55478252-55478921	GM12892	blood:	n/a	n/a
47	POLR2A	chrX:55478143-55478844	GM19099	blood:	n/a	n/a
48	SPI1	chrX:55478270-55478711	GM12891	blood:	n/a	chrX:55478512-55478525 chrX:55478511-55478524 chrX:55478514-55478521 chrX:55478513-55478522
49	POLR2A	chrX:55478218-55478885	GM12878	blood:	n/a	n/a
50	ELF1	chrX:55478179-55479050	GM12878	blood:	n/a	chrX:55478511-55478524 chrX:55478481-55478494

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:55478329-55478379	GM12892	blood:	n/a
2	chrX:55478329-55478379	SK-N-SH_RA	brain:	n/a
3	chrX:55478329-55478379	NHDF-neo	bronchial:	n/a
4	chrX:55478329-55478379	SAEC	small airway:	n/a
5	chrX:55478329-55478379	MCF10A-Er-Src	breast:	n/a
6	chrX:55478329-55478379	NH-A	brain:	n/a
7	chrX:55478329-55478379	HEEpiC	esophagus:	n/a
8	chrX:55478329-55478379	GM06990	blood:	n/a
9	chrX:55478329-55478379	PFSK-1	brain:	n/a
10	chrX:55478329-55478379	HCT-116	colon:	n/a
11	chrX:55478329-55478379	AG04449	skin:	fetal
12	chrX:55478329-55478379	T-47D	breast:	n/a
13	chrX:55478329-55478379	SK-N-MC	brain:	n/a
14	chrX:55478329-55478379	U87	brain:	n/a
15	chrX:55478329-55478379	AG09309	skin:	n/a
16	chrX:55478329-55478379	BJ	skin:	n/a
17	chrX:55478329-55478379	HL-60	blood:	n/a
18	chrX:55478329-55478379	HPAEpiC	pulmonary alveolar:	n/a
19	chrX:55478329-55478379	HepG2	liver:	n/a
20	chrX:55478329-55478379	HNPCEpiC	eye:	n/a
21	chrX:55478329-55478379	AG10803	skin:	n/a
22	chrX:55478329-55478379	HAEpiC	amniotic membrane:	n/a
23	chrX:55478329-55478379	MCF-7	breast:	n/a
24	chrX:55478329-55478379	AG09319	gingival:	n/a
25	chrX:55478329-55478379	CMK	blood:	n/a
26	chrX:55478329-55478379	HUVEC	blood vessel:	n/a
27	chrX:55478329-55478379	ECC-1	luminal epithelium:	n/a
28	chrX:55478329-55478379	HCM	heart:	n/a
29	chrX:55478329-55478379	ProgFib	skin:	n/a
30	chrX:55478329-55478379	HMEC	breast:	n/a
31	chrX:55478329-55478379	K562	blood:	n/a
32	chrX:55478329-55478379	SKMC	muscle:	n/a
33	chrX:55478329-55478379	GM12891	blood:	n/a
34	chrX:55478329-55478379	GM19239	blood:	n/a
35	chrX:55478329-55478379	LNCaP	prostate:	n/a
36	chrX:55478329-55478379	Hela-S3	cervix:	n/a
37	chrX:55478329-55478379	HRCEpiC	kidney:	n/a
38	chrX:55478329-55478379	NB4	blood:	n/a
39	chrX:55478329-55478379	A549	lung:	n/a
40	chrX:55478329-55478379	HCF	heart:	n/a
41	chrX:55478329-55478379	HRPEpiC	eye:	n/a
42	chrX:55478329-55478379	H1-hESC	embryonic stem cell:	embryo
43	chrX:55478329-55478379	BE2_C	brain:	n/a
44	chrX:55478329-55478379	IMR90	lung:	fetal
45	chrX:55478329-55478379	HIPEpiC	eye:	n/a
46	chrX:55478329-55478379	HEK293	kidney:	embryo
47	chrX:55478329-55478379	SK-N-SH	brain:	n/a
48	chrX:55478329-55478379	NT2-D1	testis:	n/a
49	chrX:55478329-55478379	Hepatocyte	liver:	n/a
50	chrX:55478329-55478379	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:55478272..55480275-chrX:55742945..55745674,2	MCF-7	breast:
2	chr3:145877632..145880246-chrX:55477813..55479806,2	MCF-7	breast:

Variant related genes	Relation type
MAGEH1	TF binding region
MAGEH1	CpG island
ENSG00000083750	Chromatin interaction
ENSG00000152952	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410436	chrX:55229677-55671986	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	esv3494957	chrX:55328700-55585199	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3494958	chrX:55328757-55585154	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv469510	chrX:55463837-55570914	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv482619	chrX:55463837-55570914	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:55477400-55480000	Active TSS	Colonic Mucosa	Colon
2	chrX:55477600-55480000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chrX:55477800-55478400	Active TSS	Fetal Muscle Leg	muscle
4	chrX:55477800-55479200	Active TSS	Stomach Mucosa	stomach
5	chrX:55477800-55479400	Active TSS	A549	lung
6	chrX:55477800-55479600	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chrX:55477800-55479800	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chrX:55477800-55480000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chrX:55477800-55480000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chrX:55477800-55480000	Active TSS	Brain Angular Gyrus	brain
11	chrX:55477800-55480000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chrX:55477800-55480000	Active TSS	Brain Substantia Nigra	brain
13	chrX:55477800-55480200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chrX:55477800-55480200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chrX:55477800-55480200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chrX:55477800-55480200	Active TSS	Brain Cingulate Gyrus	brain
17	chrX:55477800-55480200	Active TSS	Fetal Intestine Small	intestine
18	chrX:55477800-55480200	Active TSS	GM12878-XiMat	blood
19	chrX:55478000-55478400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chrX:55478000-55478400	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chrX:55478000-55478400	Flanking Active TSS	Primary T cells from cord blood	blood
22	chrX:55478000-55478400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chrX:55478000-55478400	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chrX:55478000-55478400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chrX:55478000-55478400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chrX:55478000-55478400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chrX:55478000-55478400	Flanking Active TSS	HUVEC	blood vessel
28	chrX:55478000-55478400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chrX:55478000-55478400	Flanking Active TSS	Osteobl	bone
30	chrX:55478000-55478600	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chrX:55478000-55478800	Active TSS	Primary neutrophils fromperipheralblood	blood
32	chrX:55478000-55478800	Active TSS	Primary B cells from cord blood	blood
33	chrX:55478000-55479000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
34	chrX:55478000-55479400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chrX:55478000-55479400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chrX:55478000-55479400	Active TSS	Pancreas	Pancrea
37	chrX:55478000-55479400	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chrX:55478000-55479400	Active TSS	NHEK	skin
39	chrX:55478000-55479600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chrX:55478000-55479600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
41	chrX:55478000-55479600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chrX:55478000-55479600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chrX:55478000-55479600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chrX:55478000-55479600	Active TSS	Esophagus	oesophagus
45	chrX:55478000-55479600	Active TSS	Left Ventricle	heart
46	chrX:55478000-55479600	Active TSS	Lung	lung
47	chrX:55478000-55479600	Active TSS	Rectal Mucosa Donor 31	rectum
48	chrX:55478000-55479600	Active TSS	Rectal Smooth Muscle	rectum
49	chrX:55478000-55479600	Active TSS	Right Ventricle	heart
50	chrX:55478000-55479600	Active TSS	Sigmoid Colon	Sigmoid Colon

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