Variant report

Variant	rs377749920
Chromosome Location	chrX:153665100-153665101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chrX:153664814-153665660	K562	blood:	n/a	chrX:153665171-153665180
2	POLR2A	chrX:153664728-153665136	GM12892	blood:	n/a	n/a
3	POLR2A	chrX:153664790-153665174	K562	blood:	n/a	n/a
4	POLR2A	chrX:153664823-153665146	GM12878	blood:	n/a	n/a
5	POLR2A	chrX:153664653-153665168	HL-60	blood:	n/a	n/a
6	POLR2A	chrX:153664752-153666906	ProgFib	skin:	n/a	n/a
7	MAZ	chrX:153664611-153666068	IMR90	lung:	n/a	chrX:153665813-153665822 chrX:153665165-153665175
8	POLR2A	chrX:153664712-153665162	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chrX:153664804-153665157	K562	blood:	n/a	n/a
10	POLR2A	chrX:153664795-153665171	GM12878	blood:	n/a	n/a
11	FOXP2	chrX:153664789-153665166	PFSK-1	brain:	n/a	n/a
12	YY1	chrX:153664850-153665150	K562	blood:	n/a	n/a
13	SIN3AK20	chrX:153664819-153665113	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chrX:153664954-153665101	A549	lung:	n/a	n/a
15	POLR2A	chrX:153664852-153665134	GM12891	blood:	n/a	n/a
16	POLR2A	chrX:153664498-153665133	K562	blood:	n/a	n/a
17	EGR1	chrX:153664884-153665161	K562	blood:	n/a	n/a
18	SIN3AK20	chrX:153664709-153665159	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chrX:153664803-153665285	K562	blood:	n/a	n/a
20	POLR2A	chrX:153664798-153666651	HUVEC	blood vessel:	n/a	n/a
21	PML	chrX:153664849-153665127	K562	blood:	n/a	n/a
22	POLR2A	chrX:153664664-153665134	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chrX:153664995-153665116	A549	lung:	n/a	n/a
24	MTA3	chrX:153664766-153665124	GM12878	blood:	n/a	n/a
25	UBTF	chrX:153664912-153665137	K562	blood:	n/a	n/a
26	YY1	chrX:153664748-153665136	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chrX:153664705-153665138	H1-hESC	embryonic stem cell:	n/a	n/a
28	YY1	chrX:153664718-153665160	K562	blood:	n/a	n/a
29	MAZ	chrX:153664847-153665681	K562	blood:	n/a	chrX:153665165-153665175
30	POLR2A	chrX:153664837-153665113	GM12878	blood:	n/a	n/a
31	SIN3A	chrX:153664728-153665125	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYC	chrX:153664828-153665124	K562	blood:	n/a	n/a
33	REST	chrX:153664635-153666596	H1-neurons	neurons:	n/a	chrX:153665381-153665394 chrX:153665663-153665676 chrX:153665783-153665796 chrX:153665783-153665796
34	MAZ	chrX:153664878-153665637	GM12878	blood:	n/a	chrX:153665165-153665175
35	RCOR1	chrX:153664811-153665104	K562	blood:	n/a	n/a
36	MAX	chrX:153664667-153665143	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chrX:153664837-153665114	GM12878	blood:	n/a	n/a
38	MAX	chrX:153664714-153665150	K562	blood:	n/a	n/a
39	EGR1	chrX:153664908-153665151	K562	blood:	n/a	n/a
40	CREB1	chrX:153664874-153665135	A549	lung:	n/a	n/a
41	ZBTB7A	chrX:153664859-153665158	K562	blood:	n/a	n/a
42	MAX	chrX:153664878-153665139	K562	blood:	n/a	n/a
43	POLR2A	chrX:153664921-153665746	GM12892	blood:	n/a	n/a
44	YY1	chrX:153664899-153665716	GM12878	blood:	n/a	chrX:153665171-153665182 chrX:153665493-153665505 chrX:153665466-153665475 chrX:153665492-153665509
45	REST	chrX:153665006-153665166	K562	blood:	n/a	n/a
46	POLR2A	chrX:153664702-153665876	H1-hESC	embryonic stem cell:	n/a	n/a
47	E2F6	chrX:153664781-153665133	K562	blood:	n/a	n/a
48	POLR2A	chrX:153664929-153668751	K562	blood:	n/a	n/a
49	POLR2A	chrX:153664945-153665113	A549	lung:	n/a	n/a
50	POLR2A	chrX:153664835-153665128	GM12891	blood:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:153596589..153600122-chrX:153663177..153666593,6	K562	blood:
2	chrX:153639669..153642525-chrX:153662814..153665264,2	K562	blood:
3	X:153657611-153671976..X:153681712-153701576	Hela-S3	cervix:
4	X:153214268-153230257..X:153657611-153671976	H1-hESC	embryonic stem cell:	embryo
5	chrX:153636168..153639473-chrX:153663428..153667737,8	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:153663553..153666950-chrX:153742012..153745567,3	MCF-7	breast:
9	chrX:153664924..153665561-chrX:153718679..153719442,2	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	X:153657611-153671976..X:153736289-153755323	Hela-S3	cervix:
20	chrX:153664219..153666172-chrX:153706574..153708655,2	MCF-7	breast:
21	X:153198557-153214268..X:153657611-153671976	Hela-S3	cervix:
22	X:153657611-153671976..X:153701576-153715648	Hela-S3	cervix:
23	X:153574513-153584637..X:153657611-153671976	H1-hESC	embryonic stem cell:	embryo
24	chrX:153664786..153666596-chrX:153718680..153720601,2	MCF-7	breast:
25	chrX:153625254..153633054-chrX:153663966..153667311,10	MCF-7	breast:

No data

Variant related genes	Relation type
GDI1	TF binding region
ENSG00000089820	Chromatin interaction
ENSG00000102030	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000196976	Chromatin interaction
ENSG00000073009	Chromatin interaction
ENSG00000102125	Chromatin interaction
ENSG00000013563	Chromatin interaction
ENSG00000130830	Chromatin interaction
ENSG00000261773	Chromatin interaction
ENSG00000102178	Chromatin interaction
ENSG00000102032	Chromatin interaction
ENSG00000130827	Chromatin interaction
ENSG00000071889	Chromatin interaction
ENSG00000196924	Chromatin interaction
ENSG00000160219	Chromatin interaction
ENSG00000207165	Chromatin interaction
ENSG00000172534	Chromatin interaction
ENSG00000160211	Chromatin interaction
ENSG00000126903	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:153658200-153665200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chrX:153658400-153665600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chrX:153659600-153666000	Weak transcription	Stomach Mucosa	stomach
4	chrX:153660400-153679800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chrX:153664000-153667000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chrX:153664400-153665200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chrX:153664400-153666600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chrX:153664400-153666800	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chrX:153664400-153666800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chrX:153664600-153665200	Flanking Active TSS	Dnd41	blood
11	chrX:153664600-153665200	Enhancers	HUVEC	blood vessel
12	chrX:153664600-153665400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chrX:153664600-153665800	ZNF genes & repeats	Lung	lung
14	chrX:153664600-153666400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chrX:153664600-153666400	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chrX:153664600-153666600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chrX:153664600-153666600	Active TSS	Brain Substantia Nigra	brain
18	chrX:153664600-153666800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chrX:153664600-153666800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chrX:153664600-153666800	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chrX:153664600-153666800	Active TSS	Brain Cingulate Gyrus	brain
22	chrX:153664600-153667000	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chrX:153664600-153667400	Active TSS	Brain Germinal Matrix	brain
24	chrX:153664800-153665200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chrX:153664800-153665600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chrX:153664800-153666000	Active TSS	Primary hematopoietic stem cells	blood
27	chrX:153664800-153666000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chrX:153664800-153666000	Active TSS	Gastric	stomach
29	chrX:153664800-153666200	Active TSS	Primary B cells from cord blood	blood
30	chrX:153664800-153666200	Active TSS	Primary T cells from cord blood	blood
31	chrX:153664800-153666200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chrX:153664800-153666200	Active TSS	Rectal Mucosa Donor 31	rectum
33	chrX:153664800-153666400	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chrX:153664800-153666400	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chrX:153664800-153666400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chrX:153664800-153666400	Weak transcription	Fetal Heart	heart
37	chrX:153664800-153666400	Active TSS	Ovary	ovary
38	chrX:153664800-153666400	Active TSS	Placenta Amnion	Placenta Amnion
39	chrX:153664800-153666400	Active TSS	Small Intestine	intestine
40	chrX:153664800-153666400	Active TSS	GM12878-XiMat	blood
41	chrX:153664800-153666600	Active TSS	H1 Cell Line	embryonic stem cell
42	chrX:153664800-153666600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chrX:153664800-153666600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chrX:153664800-153666600	Active TSS	Aorta	Aorta
45	chrX:153664800-153666600	Active TSS	Brain Anterior Caudate	brain
46	chrX:153664800-153666600	Active TSS	Esophagus	oesophagus
47	chrX:153664800-153666600	Active TSS	Fetal Lung	lung
48	chrX:153664800-153666600	Active TSS	Left Ventricle	heart
49	chrX:153664800-153666600	Active TSS	Right Atrium	heart
50	chrX:153664800-153666600	Active TSS	Sigmoid Colon	Sigmoid Colon

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