Variant report

Variant	rs189578067
Chromosome Location	chrX:153665794-153665795
allele	A/C
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:153665323-153666050	K562	blood:	n/a	n/a
2	POLR2A	chrX:153665292-153665857	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chrX:153665263-153665860	MCF-7	breast:	n/a	n/a
4	SIN3A	chrX:153665355-153665818	H1-hESC	embryonic stem cell:	n/a	chrX:153665357-153665366 chrX:153665429-153665440 chrX:153665464-153665475
5	PAX5	chrX:153665316-153665985	GM12892	blood:	n/a	n/a
6	ELF1	chrX:153665237-153666242	GM12878	blood:	n/a	n/a
7	SIN3AK20	chrX:153665248-153665824	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chrX:153665246-153665873	PFSK-1	brain:	n/a	n/a
9	POLR2A	chrX:153664752-153666906	ProgFib	skin:	n/a	n/a
10	MAZ	chrX:153664611-153666068	IMR90	lung:	n/a	chrX:153665813-153665822 chrX:153665165-153665175
11	YY1	chrX:153665173-153665795	GM12892	blood:	n/a	chrX:153665493-153665505 chrX:153665466-153665475 chrX:153665492-153665509 chrX:153665729-153665748
12	POLR2A	chrX:153665315-153665815	Hela-S3	cervix:	n/a	n/a
13	HMGN3	chrX:153665552-153665833	K562	blood:	n/a	n/a
14	POLR2A	chrX:153665275-153665921	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chrX:153665221-153665888	Gliobla	brain:	n/a	n/a
16	YY1	chrX:153665186-153665794	K562	blood:	n/a	chrX:153665493-153665505 chrX:153665466-153665475 chrX:153665492-153665509 chrX:153665729-153665748
17	POLR2A	chrX:153665276-153665940	MCF-7	breast:	n/a	n/a
18	POLR2A	chrX:153665245-153667031	HepG2	liver:	n/a	n/a
19	POLR2A	chrX:153664798-153666651	HUVEC	blood vessel:	n/a	n/a
20	TAF1	chrX:153665310-153665810	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chrX:153665442-153665907	U87	brain:	n/a	n/a
22	MAX	chrX:153665217-153665869	A549	lung:	n/a	chrX:153665813-153665822
23	TCF12	chrX:153665313-153665852	A549	lung:	n/a	n/a
24	POLR2A	chrX:153665398-153665797	A549	lung:	n/a	n/a
25	EP300	chrX:153665231-153665824	ECC-1	luminal epithelium:	n/a	chrX:153665706-153665715 chrX:153665763-153665772 chrX:153665357-153665373
26	TAF1	chrX:153665357-153665829	H1-neurons	neurons:	n/a	n/a
27	REST	chrX:153664635-153666596	H1-neurons	neurons:	n/a	chrX:153665381-153665394 chrX:153665663-153665676 chrX:153665783-153665796 chrX:153665783-153665796
28	YY1	chrX:153665119-153665957	SK-N-SH	brain:	n/a	chrX:153665171-153665182 chrX:153665493-153665505 chrX:153665466-153665475 chrX:153665492-153665509 chrX:153665729-153665748
29	YY1	chrX:153665211-153665896	K562	blood:	n/a	chrX:153665493-153665505 chrX:153665466-153665475 chrX:153665492-153665509 chrX:153665729-153665748
30	POLR2A	chrX:153665242-153665841	A549	lung:	n/a	n/a
31	POLR2A	chrX:153665312-153665835	MCF-7	breast:	n/a	n/a
32	POLR2A	chrX:153665203-153665844	HUVEC	blood vessel:	n/a	n/a
33	REST	chrX:153665419-153665874	H1-neurons	neurons:	n/a	chrX:153665663-153665676 chrX:153665783-153665796 chrX:153665783-153665796
34	POLR2A	chrX:153665324-153665814	GM12878	blood:	n/a	n/a
35	POLR2A	chrX:153664702-153665876	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chrX:153664929-153668751	K562	blood:	n/a	n/a
37	YY1	chrX:153665175-153665836	HepG2	liver:	n/a	chrX:153665493-153665505 chrX:153665466-153665475 chrX:153665492-153665509 chrX:153665729-153665748
38	TAF1	chrX:153665290-153665893	MCF-7	breast:	n/a	n/a
39	PML	chrX:153665339-153665824	GM12878	blood:	n/a	n/a
40	POLR2A	chrX:153665230-153666345	H1-neurons	neurons:	n/a	n/a
41	TAF1	chrX:153665287-153665923	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:153596589..153600122-chrX:153663177..153666593,6	K562	blood:
2	X:153657611-153671976..X:153681712-153701576	Hela-S3	cervix:
3	X:153214268-153230257..X:153657611-153671976	H1-hESC	embryonic stem cell:	embryo
4	chrX:153636168..153639473-chrX:153663428..153667737,8	MCF-7	breast:
5	chrX:153665329..153668066-chrX:153774780..153776926,2	MCF-7	breast:
6	X:153625659-153635385..X:153657611-153671976	H1-hESC	embryonic stem cell:	embryo
7	X:153187063-153190397..X:153657611-153671976	H1-hESC	embryonic stem cell:	embryo
8	chrX:153638347..153641309-chrX:153665287..153666936,2	K562	blood:
9	chrX:153663553..153666950-chrX:153742012..153745567,3	MCF-7	breast:
10	X:153657611-153671976..X:153967468-153979902	H1-hESC	embryonic stem cell:	embryo
11	X:153657611-153671976..X:153755323-153771683	Hela-S3	cervix:
12	chrX:153661960..153666485-chrX:153685751..153689252,6	K562	blood:
13	chrX:153595338..153600468-chrX:153664217..153668349,5	K562	blood:
14	chrX:153597446..153602147-chrX:153663095..153667390,6	MCF-7	breast:
15	X:153586280-153597086..X:153657611-153671976	H1-hESC	embryonic stem cell:	embryo
16	X:153657611-153671976..X:154015910-154019964	Hela-S3	cervix:
17	chrX:153625525..153632382-chrX:153663983..153668753,13	K562	blood:
18	chrX:153661692..153667668-chrX:153711020..153716574,8	MCF-7	breast:
19	chrX:153665315..153667101-chrX:153706247..153709053,2	K562	blood:
20	X:153657611-153671976..X:153736289-153755323	Hela-S3	cervix:
21	chrX:153664219..153666172-chrX:153706574..153708655,2	MCF-7	breast:
22	X:153198557-153214268..X:153657611-153671976	Hela-S3	cervix:
23	X:153657611-153671976..X:153701576-153715648	Hela-S3	cervix:
24	X:153574513-153584637..X:153657611-153671976	H1-hESC	embryonic stem cell:	embryo
25	chrX:153664786..153666596-chrX:153718680..153720601,2	MCF-7	breast:
26	chrX:153625254..153633054-chrX:153663966..153667311,10	MCF-7	breast:

Variant related genes	Relation type
GDI1	TF binding region
ENSG00000013563	Chromatin interaction
ENSG00000160211	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000207165	Chromatin interaction
ENSG00000102030	Chromatin interaction
ENSG00000172534	Chromatin interaction
ENSG00000089820	Chromatin interaction
ENSG00000102125	Chromatin interaction
ENSG00000130827	Chromatin interaction
ENSG00000126903	Chromatin interaction
ENSG00000160219	Chromatin interaction
ENSG00000073009	Chromatin interaction
ENSG00000196924	Chromatin interaction
ENSG00000261773	Chromatin interaction
ENSG00000196976	Chromatin interaction
ENSG00000102178	Chromatin interaction
ENSG00000102032	Chromatin interaction
ENSG00000071889	Chromatin interaction
ENSG00000130830	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33199	chrX:152864376-153820241	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	276 gene(s)	inside rSNPs	diseases
2	nsv528291	chrX:152864376-153827637	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	277 gene(s)	inside rSNPs	diseases
3	nsv915605	chrX:153333946-153783638	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	nsv519042	chrX:153348431-153829693	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
5	nsv532962	chrX:153564946-153870337	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	199 gene(s)	inside rSNPs	diseases
6	nsv532963	chrX:153576890-153822717	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	195 gene(s)	inside rSNPs	diseases
7	nsv530281	chrX:153622940-153783184	Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
8	nsv532964	chrX:153622940-153854307	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
9	esv3408138	chrX:153664208-153666531	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:153659600-153666000	Weak transcription	Stomach Mucosa	stomach
2	chrX:153660400-153679800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chrX:153664000-153667000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chrX:153664400-153666600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chrX:153664400-153666800	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chrX:153664400-153666800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chrX:153664600-153665800	ZNF genes & repeats	Lung	lung
8	chrX:153664600-153666400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chrX:153664600-153666400	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chrX:153664600-153666600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chrX:153664600-153666600	Active TSS	Brain Substantia Nigra	brain
12	chrX:153664600-153666800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chrX:153664600-153666800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chrX:153664600-153666800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chrX:153664600-153666800	Active TSS	Brain Cingulate Gyrus	brain
16	chrX:153664600-153667000	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chrX:153664600-153667400	Active TSS	Brain Germinal Matrix	brain
18	chrX:153664800-153666000	Active TSS	Primary hematopoietic stem cells	blood
19	chrX:153664800-153666000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chrX:153664800-153666000	Active TSS	Gastric	stomach
21	chrX:153664800-153666200	Active TSS	Primary B cells from cord blood	blood
22	chrX:153664800-153666200	Active TSS	Primary T cells from cord blood	blood
23	chrX:153664800-153666200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chrX:153664800-153666200	Active TSS	Rectal Mucosa Donor 31	rectum
25	chrX:153664800-153666400	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chrX:153664800-153666400	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chrX:153664800-153666400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chrX:153664800-153666400	Weak transcription	Fetal Heart	heart
29	chrX:153664800-153666400	Active TSS	Ovary	ovary
30	chrX:153664800-153666400	Active TSS	Placenta Amnion	Placenta Amnion
31	chrX:153664800-153666400	Active TSS	Small Intestine	intestine
32	chrX:153664800-153666400	Active TSS	GM12878-XiMat	blood
33	chrX:153664800-153666600	Active TSS	H1 Cell Line	embryonic stem cell
34	chrX:153664800-153666600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chrX:153664800-153666600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chrX:153664800-153666600	Active TSS	Aorta	Aorta
37	chrX:153664800-153666600	Active TSS	Brain Anterior Caudate	brain
38	chrX:153664800-153666600	Active TSS	Esophagus	oesophagus
39	chrX:153664800-153666600	Active TSS	Fetal Lung	lung
40	chrX:153664800-153666600	Active TSS	Left Ventricle	heart
41	chrX:153664800-153666600	Active TSS	Right Atrium	heart
42	chrX:153664800-153666600	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chrX:153664800-153666600	Active TSS	Osteobl	bone
44	chrX:153664800-153666800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chrX:153664800-153666800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chrX:153664800-153666800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chrX:153664800-153666800	Active TSS	Psoas Muscle	Psoas
48	chrX:153664800-153666800	Active TSS	Rectal Smooth Muscle	rectum
49	chrX:153664800-153667000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chrX:153664800-153667000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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