Variant report

Variant	rs11544439
Chromosome Location	chrX:153770611-153770612
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	SRF	chrX:153770175-153770705	K562	blood:	n/a	n/a
2	SIN3AK20	chrX:153768802-153770787	MCF-7	breast:	n/a	n/a
3	JUND	chrX:153769411-153770662	A549	lung:	n/a	chrX:153770304-153770313 chrX:153770303-153770314 chrX:153769452-153769463 chrX:153770303-153770313 chrX:153769452-153769464 chrX:153770302-153770313 chrX:153769454-153769462 chrX:153769943-153769953 chrX:153769943-153769953 chrX:153770405-153770414
4	MAZ	chrX:153769068-153770807	HepG2	liver:	n/a	chrX:153770407-153770417 chrX:153770303-153770312
5	POLR2A	chrX:153768922-153771906	HepG2	liver:	n/a	n/a
6	JUN	chrX:153769448-153771117	K562	blood:	n/a	chrX:153770304-153770313 chrX:153770303-153770314 chrX:153770303-153770313 chrX:153769452-153769464 chrX:153769454-153769462 chrX:153769943-153769953 chrX:153769943-153769953 chrX:153770405-153770414
7	MAX	chrX:153768739-153772028	A549	lung:	n/a	chrX:153770830-153770840 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770407-153770417 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770831-153770840 chrX:153771225-153771238 chrX:153770303-153770312 chrX:153771225-153771238 chrX:153770831-153770841
8	TBP	chrX:153769983-153771587	Hela-S3	cervix:	n/a	n/a
9	TFAP2A	chrX:153769342-153771315	Hela-S3	cervix:	n/a	chrX:153770304-153770313 chrX:153770746-153770758 chrX:153769453-153769462
10	MAX	chrX:153769256-153771811	A549	lung:	n/a	chrX:153770830-153770840 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770407-153770417 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770831-153770840 chrX:153771225-153771238 chrX:153770303-153770312 chrX:153771225-153771238 chrX:153770831-153770841
11	FOS	chrX:153769986-153770670	HUVEC	blood vessel:	n/a	chrX:153770304-153770313 chrX:153770303-153770314 chrX:153770303-153770313 chrX:153770302-153770313 chrX:153770405-153770414
12	MAX	chrX:153769986-153771427	K562	blood:	n/a	chrX:153770830-153770840 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770407-153770417 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770831-153770840 chrX:153771225-153771238 chrX:153770303-153770312 chrX:153771225-153771238 chrX:153770831-153770841
13	POLR2A	chrX:153770010-153770638	U87	brain:	n/a	n/a
14	TBP	chrX:153769057-153770748	HepG2	liver:	n/a	n/a
15	NFIC	chrX:153769937-153770615	SK-N-SH	brain:	n/a	chrX:153770190-153770207 chrX:153770320-153770336 chrX:153770190-153770206
16	SPI1	chrX:153770110-153770952	HL-60	blood:	n/a	chrX:153770370-153770379 chrX:153770823-153770830 chrX:153770368-153770381 chrX:153770807-153770820
17	MAZ	chrX:153770006-153771400	Hela-S3	cervix:	n/a	chrX:153770830-153770840 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770407-153770417 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770831-153770840 chrX:153771225-153771238 chrX:153770303-153770312 chrX:153771225-153771238 chrX:153770831-153770841
18	PBX3	chrX:153769966-153770675	SK-N-SH	brain:	n/a	n/a
19	TCF12	chrX:153769880-153771068	A549	lung:	n/a	chrX:153770861-153770871 chrX:153770042-153770049 chrX:153770413-153770423
20	TBP	chrX:153770166-153770716	K562	blood:	n/a	n/a
21	ZBTB7A	chrX:153770055-153770763	K562	blood:	n/a	chrX:153770753-153770761
22	JUND	chrX:153769056-153770682	MCF-7	breast:	n/a	chrX:153770304-153770313 chrX:153770303-153770314 chrX:153769452-153769463 chrX:153770303-153770313 chrX:153769452-153769464 chrX:153770302-153770313 chrX:153769454-153769462 chrX:153769943-153769953 chrX:153769943-153769953 chrX:153770405-153770414
23	NR2F2	chrX:153769133-153770648	MCF-7	breast:	n/a	n/a
24	MAX	chrX:153768763-153771510	HepG2	liver:	n/a	chrX:153770830-153770840 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770407-153770417 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770831-153770840 chrX:153771225-153771238 chrX:153770303-153770312 chrX:153771225-153771238 chrX:153770831-153770841
25	EP300	chrX:153769110-153770636	MCF-7	breast:	n/a	chrX:153769195-153769211 chrX:153770342-153770349 chrX:153770410-153770419 chrX:153769371-153769381
26	SIX5	chrX:153770023-153770654	A549	lung:	n/a	n/a
27	POLR2A	chrX:153769196-153771829	HepG2	liver:	n/a	n/a
28	MYC	chrX:153769927-153771410	Hela-S3	cervix:	n/a	chrX:153770830-153770840 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770407-153770417 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770831-153770840 chrX:153771225-153771238 chrX:153770303-153770312 chrX:153771225-153771238 chrX:153770831-153770841
29	POLR2A	chrX:153770050-153770678	K562	blood:	n/a	n/a
30	POLR2A	chrX:153768761-153771924	PANC-1	pancreas:	n/a	n/a
31	MAX	chrX:153769020-153771573	MCF-7	breast:	n/a	chrX:153770830-153770840 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770407-153770417 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770831-153770840 chrX:153771225-153771238 chrX:153770303-153770312 chrX:153771225-153771238 chrX:153770831-153770841
32	MAX	chrX:153769807-153771822	Hela-S3	cervix:	n/a	chrX:153770830-153770840 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770407-153770417 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770831-153770840 chrX:153771225-153771238 chrX:153770303-153770312 chrX:153771225-153771238 chrX:153770831-153770841
33	POLR2A	chrX:153769492-153771846	A549	lung:	n/a	n/a
34	EP300	chrX:153770086-153770895	HepG2	liver:	n/a	chrX:153770342-153770349 chrX:153770410-153770419
35	SMARCC1	chrX:153769395-153771482	Hela-S3	cervix:	n/a	chrX:153769454-153769463 chrX:153770304-153770313
36	BCL3	chrX:153769056-153771948	A549	lung:	n/a	chrX:153770715-153770724 chrX:153770358-153770365
37	NR3C1	chrX:153769801-153770617	A549	lung:	n/a	chrX:153769933-153769948
38	MYC	chrX:153770120-153771704	NB4	blood:	n/a	chrX:153770830-153770840 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770407-153770417 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770831-153770840 chrX:153771225-153771238 chrX:153770303-153770312 chrX:153771225-153771238 chrX:153770831-153770841
39	MYC	chrX:153770008-153771356	K562	blood:	n/a	chrX:153770830-153770840 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770407-153770417 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770831-153770840 chrX:153771225-153771238 chrX:153770303-153770312 chrX:153771225-153771238 chrX:153770831-153770841
40	ZBTB33	chrX:153769830-153770627	A549	lung:	n/a	n/a
41	POLR2A	chrX:153769230-153771521	Hela-S3	cervix:	n/a	n/a
42	SP1	chrX:153769024-153771802	A549	lung:	n/a	chrX:153770405-153770417 chrX:153770406-153770415 chrX:153769884-153769894 chrX:153770807-153770821 chrX:153769621-153769631 chrX:153769716-153769730
43	MYC	chrX:153769995-153771528	HepG2	liver:	n/a	chrX:153770830-153770840 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770407-153770417 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770831-153770840 chrX:153771225-153771238 chrX:153770303-153770312 chrX:153771225-153771238 chrX:153770831-153770841
44	UBTF	chrX:153770068-153770687	K562	blood:	n/a	n/a
45	SIN3AK20	chrX:153770180-153770810	A549	lung:	n/a	n/a
46	MAX	chrX:153769279-153771722	Hela-S3	cervix:	n/a	chrX:153770830-153770840 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770407-153770417 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770831-153770840 chrX:153771225-153771238 chrX:153770303-153770312 chrX:153771225-153771238 chrX:153770831-153770841
47	POLR2A	chrX:153770279-153771556	Hela-S3	cervix:	n/a	n/a
48	JUND	chrX:153769067-153771920	A549	lung:	n/a	chrX:153770304-153770313 chrX:153771857-153771868 chrX:153770303-153770314 chrX:153769452-153769463 chrX:153770303-153770313 chrX:153769452-153769464 chrX:153770302-153770313 chrX:153769454-153769462 chrX:153769943-153769953 chrX:153769943-153769953 chrX:153770405-153770414
49	NFIC	chrX:153769836-153770663	SK-N-SH	brain:	n/a	chrX:153770190-153770207 chrX:153770320-153770336 chrX:153770190-153770206
50	GATA3	chrX:153769899-153770636	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chrX:153770257..153772733-chrX:153989355..153991758,2	K562	blood:
2	chrX:153606027..153608677-chrX:153768704..153771299,2	MCF-7	breast:
3	chrX:153666975..153668910-chrX:153767855..153770854,2	MCF-7	breast:
4	chrX:153655481..153657852-chrX:153768778..153771748,2	MCF-7	breast:
5	chrX:153597323..153603501-chrX:153767536..153771485,7	K562	blood:
6	chrX:153711537..153716459-chrX:153767417..153772470,5	K562	blood:
7	chrX:153743857..153745716-chrX:153768769..153770861,3	K562	blood:
8	chrX:153645880..153647926-chrX:153769966..153772219,2	MCF-7	breast:
9	chrX:153625830..153633897-chrX:153767392..153772063,11	K562	blood:
10	chrX:153639279..153641486-chrX:153769112..153771596,3	MCF-7	breast:
11	X:153657611-153671976..X:153755323-153771683	Hela-S3	cervix:
12	chrX:153597323..153599953-chrX:153767551..153771879,5	K562	blood:
13	chrX:153595797..153602112-chrX:153766071..153771136,12	MCF-7	breast:
14	chrX:153713383..153715797-chrX:153769453..153771661,2	K562	blood:
15	chrX:153739964..153747755-chrX:153769201..153779573,21	MCF-7	breast:
16	chrX:153624391..153630513-chrX:153767458..153777755,28	MCF-7	breast:
17	chr17:62500269..62502052-chrX:153769517..153771646,2	MCF-7	breast:
18	chrX:153742627..153746314-chrX:153768128..153770916,5	MCF-7	breast:
19	chrX:153605631..153609024-chrX:153768272..153771518,4	MCF-7	breast:
20	chrX:153236430..153239363-chrX:153768843..153770673,2	MCF-7	breast:
21	chrX:153595658..153604095-chrX:153765725..153780258,40	MCF-7	breast:
22	chrX:153769675..153772561-chrX:153778799..153782513,4	MCF-7	breast:
23	chrX:153743896..153747919-chrX:153768909..153770861,4	K562	blood:
24	X:153719993-153730954..X:153755323-153771683	K562	blood:
25	chrX:153625296..153629968-chrX:153767983..153777827,13	K562	blood:
26	X:153614328-153625659..X:153755323-153771683	K562	blood:
27	chrX:153713288..153721499-chrX:153767815..153773161,10	MCF-7	breast:

Variant related genes	Relation type
IKBKG	TF binding region
ENSG00000207165	Chromatin interaction
ENSG00000108654	Chromatin interaction
ENSG00000264783	Chromatin interaction
ENSG00000102125	Chromatin interaction
ENSG00000264631	Chromatin interaction
ENSG00000102178	Chromatin interaction
ENSG00000264484	Chromatin interaction
ENSG00000102119	Chromatin interaction
ENSG00000196924	Chromatin interaction
ENSG00000130826	Chromatin interaction
ENSG00000197180	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000126903	Chromatin interaction
ENSG00000073009	Chromatin interaction
ENSG00000172534	Chromatin interaction
ENSG00000013563	Chromatin interaction
ENSG00000177854	Chromatin interaction
ENSG00000203879	Chromatin interaction
ENSG00000071889	Chromatin interaction
ENSG00000071553	Chromatin interaction
ENSG00000261773	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv995104	chrX:153731421-153832724	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
10	nsv933202	chrX:153762015-153783639	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases
11	nsv916914	chrX:153767227-153774116	ZNF genes & repeats Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:153756000-153774200	Weak transcription	Psoas Muscle	Psoas
2	chrX:153756000-153774800	Weak transcription	Aorta	Aorta
3	chrX:153762800-153771000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chrX:153762800-153774200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chrX:153762800-153774800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chrX:153763000-153774400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chrX:153763000-153774400	Weak transcription	Fetal Kidney	kidney
8	chrX:153763600-153771000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chrX:153763600-153773000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chrX:153763600-153774400	Weak transcription	Fetal Intestine Large	intestine
11	chrX:153764200-153774600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chrX:153764400-153770800	Weak transcription	Primary T cells from cord blood	blood
13	chrX:153764400-153771000	Weak transcription	Colonic Mucosa	Colon
14	chrX:153764400-153774200	Weak transcription	Pancreas	Pancrea
15	chrX:153764600-153774000	Weak transcription	Brain Germinal Matrix	brain
16	chrX:153767800-153771600	Weak transcription	Brain Anterior Caudate	brain
17	chrX:153768600-153771800	ZNF genes & repeats	Fetal Stomach	stomach
18	chrX:153768800-153771000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chrX:153768800-153771800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chrX:153768800-153771800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chrX:153768800-153771800	Enhancers	Stomach Mucosa	stomach
22	chrX:153768800-153772000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
23	chrX:153768800-153772200	Strong transcription	H1 Cell Line	embryonic stem cell
24	chrX:153769000-153770800	Enhancers	Placenta Amnion	Placenta Amnion
25	chrX:153769000-153771000	Strong transcription	Dnd41	blood
26	chrX:153769000-153771200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
27	chrX:153769000-153771200	Enhancers	Brain Inferior Temporal Lobe	brain
28	chrX:153769000-153771400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chrX:153769000-153771400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chrX:153769000-153771600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chrX:153769000-153771800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chrX:153769000-153771800	Enhancers	Brain Substantia Nigra	brain
33	chrX:153769000-153771800	Enhancers	Esophagus	oesophagus
34	chrX:153769000-153772000	ZNF genes & repeats	Fetal Brain Female	brain
35	chrX:153769000-153772000	Flanking Active TSS	Hela-S3	cervix
36	chrX:153769000-153772000	Enhancers	HUVEC	blood vessel
37	chrX:153769000-153773600	Strong transcription	Fetal Intestine Small	intestine
38	chrX:153769000-153774200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chrX:153769000-153774200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chrX:153769000-153774200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chrX:153769200-153770800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chrX:153769200-153773200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chrX:153769200-153773800	Enhancers	Primary hematopoietic stem cells	blood
44	chrX:153769400-153770800	Genic enhancers	Primary T cells fromperipheralblood	blood
45	chrX:153769400-153771200	Enhancers	Right Ventricle	heart
46	chrX:153769400-153771400	Bivalent Enhancer	Placenta	Placenta
47	chrX:153769400-153771400	Enhancers	Ovary	ovary
48	chrX:153769400-153771800	Enhancers	Right Atrium	heart
49	chrX:153769400-153771800	Transcr. at gene 5' and 3'	K562	blood
50	chrX:153769400-153771800	Genic enhancers	NHLF	lung

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