Variant report

Variant	rs11042849
Chromosome Location	chr11:10512308-10512309
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	REST	chr11:10512148-10512831	SK-N-SH	brain:	n/a	n/a
2	BHLHE40	chr11:10512083-10512643	K562	blood:	n/a	n/a
3	NR2F2	chr11:10511876-10512564	K562	blood:	n/a	n/a
4	MEF2A	chr11:10511804-10512969	SK-N-SH	brain:	n/a	chr11:10512857-10512865 chr11:10512224-10512232 chr11:10512310-10512318
5	MAX	chr11:10511979-10512937	SK-N-SH	brain:	n/a	chr11:10512795-10512805 chr11:10512309-10512318 chr11:10512224-10512233
6	HCFC1	chr11:10512005-10512532	K562	blood:	n/a	n/a
7	CHD2	chr11:10511967-10512668	Hela-S3	cervix:	n/a	n/a
8	NR3C1	chr11:10511950-10512572	A549	lung:	n/a	chr11:10512239-10512254
9	JUN	chr11:10512027-10512478	K562	blood:	n/a	chr11:10512310-10512318 chr11:10512308-10512319 chr11:10512311-10512318 chr11:10512225-10512236 chr11:10512316-10512329 chr11:10512308-10512320 chr11:10512309-10512319 chr11:10512310-10512318 chr11:10512223-10512232
10	JUND	chr11:10512038-10512496	A549	lung:	n/a	chr11:10512310-10512318 chr11:10512308-10512319 chr11:10512311-10512318 chr11:10512225-10512236 chr11:10512308-10512320 chr11:10512309-10512319 chr11:10512310-10512318 chr11:10512223-10512232 chr11:10512222-10512233
11	EP300	chr11:10511678-10513065	ECC-1	luminal epithelium:	n/a	chr11:10512309-10512318 chr11:10512263-10512270
12	RAD21	chr11:10511969-10512510	Hela-S3	cervix:	n/a	n/a
13	EP300	chr11:10511865-10512731	A549	lung:	n/a	chr11:10512309-10512318 chr11:10512263-10512270
14	ESR1	chr11:10512060-10512426	ECC-1	luminal epithelium:	n/a	chr11:10512239-10512256 chr11:10512238-10512255 chr11:10512355-10512370
15	STAT3	chr11:10512007-10512501	Hela-S3	cervix:	n/a	n/a
16	STAT3	chr11:10512024-10512419	MCF10A-Er-Src	breast:	n/a	n/a
17	RFX5	chr11:10511927-10512628	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr11:10512007-10512592	Hela-S3	cervix:	n/a	n/a
19	CREB1	chr11:10512105-10512530	A549	lung:	n/a	n/a
20	EP300	chr11:10511848-10512895	SK-N-SH_RA	brain:	n/a	chr11:10512309-10512318 chr11:10512263-10512270
21	POLR2A	chr11:10512057-10512482	HCT-116	colon:	n/a	n/a
22	SP1	chr11:10511935-10512606	A549	lung:	n/a	n/a
23	NFIC	chr11:10511574-10513009	ECC-1	luminal epithelium:	n/a	n/a
24	EP300	chr11:10512011-10512444	HepG2	liver:	n/a	chr11:10512309-10512318 chr11:10512263-10512270
25	FOSL2	chr11:10511746-10512721	A549	lung:	n/a	chr11:10512310-10512318 chr11:10512308-10512319 chr11:10512311-10512318 chr11:10512225-10512236 chr11:10512308-10512320 chr11:10512309-10512319 chr11:10512310-10512318 chr11:10512223-10512232
26	SMC3	chr11:10511937-10512868	Hela-S3	cervix:	n/a	n/a
27	MXI1	chr11:10512212-10512441	K562	blood:	n/a	n/a
28	FOSL2	chr11:10512052-10512519	HepG2	liver:	n/a	chr11:10512310-10512318 chr11:10512308-10512319 chr11:10512311-10512318 chr11:10512225-10512236 chr11:10512308-10512320 chr11:10512309-10512319 chr11:10512310-10512318 chr11:10512223-10512232
29	GATA3	chr11:10511891-10513155	SK-N-SH	brain:	n/a	n/a
30	SP1	chr11:10511492-10512951	HCT-116	colon:	n/a	n/a
31	ELF1	chr11:10512076-10512309	K562	blood:	n/a	chr11:10512184-10512197
32	POLR2A	chr11:10511995-10512909	SK-N-SH	brain:	n/a	n/a
33	RXRA	chr11:10511815-10512979	SK-N-SH	brain:	n/a	chr11:10512058-10512074
34	GATA3	chr11:10511819-10513071	SK-N-SH	brain:	n/a	n/a
35	TAF1	chr11:10512144-10512482	SK-N-SH	brain:	n/a	n/a
36	NFIC	chr11:10511795-10512975	SK-N-SH	brain:	n/a	n/a
37	TEAD4	chr11:10511871-10513018	SK-N-SH	brain:	n/a	n/a
38	MAX	chr11:10511856-10513005	ECC-1	luminal epithelium:	n/a	chr11:10512795-10512805 chr11:10512309-10512318 chr11:10512224-10512233
39	MAX	chr11:10511775-10513019	A549	lung:	n/a	chr11:10512795-10512805 chr11:10512309-10512318 chr11:10512224-10512233
40	TBL1XR1	chr11:10511977-10512472	K562	blood:	n/a	n/a
41	NFE2	chr11:10512134-10512499	K562	blood:	n/a	chr11:10512308-10512318 chr11:10512307-10512317 chr11:10512385-10512394 chr11:10512303-10512318 chr11:10512309-10512318
42	MYC	chr11:10511991-10512770	Hela-S3	cervix:	n/a	chr11:10512309-10512318 chr11:10512224-10512233
43	EP300	chr11:10511901-10512936	ECC-1	luminal epithelium:	n/a	chr11:10512309-10512318 chr11:10512263-10512270
44	POLR2A	chr11:10512108-10512395	SK-N-SH	brain:	n/a	n/a
45	CBX3	chr11:10511838-10512534	K562	blood:	n/a	n/a
46	FOS	chr11:10512074-10512713	MCF10A-Er-Src	breast:	n/a	chr11:10512310-10512318 chr11:10512308-10512319 chr11:10512311-10512318 chr11:10512222-10512233 chr11:10512225-10512236 chr11:10512308-10512320 chr11:10512309-10512319 chr11:10512310-10512318 chr11:10512223-10512232
47	ZNF143	chr11:10512011-10512631	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr11:10511911-10512997	U87	brain:	n/a	n/a
49	YY1	chr11:10512079-10512433	HCT-116	colon:	n/a	n/a
50	MYC	chr11:10512034-10512517	K562	blood:	n/a	chr11:10512309-10512318 chr11:10512224-10512233

No.	Distal block	Cell Line	Cell type
1	chr11:10511231..10513968-chr11:10515336..10517776,2	K562	blood:
2	chr11:10476554..10478906-chr11:10511838..10513868,2	K562	blood:
3	chr11:10506945..10508997-chr11:10510629..10513489,3	K562	blood:

Variant related genes	Relation type
AMPD3	TF binding region
ENSG00000133805	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10840426	1.00[CEU][hapmap]
rs11042835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11042836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11042843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11042844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11042845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11042847	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11042848	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042850	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12804742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17401498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34735568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35022461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35410520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35753139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36106536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4369398	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61891415	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7101748	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7105307	1.00[EUR][1000 genomes]
rs7127884	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7128132	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]

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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv896990	chr11:10458596-10514707	Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv553478	chr11:10508938-10523476	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv518705	chr11:10510272-10518289	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv519987	chr11:10510272-10518977	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10479800-10519400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:10484200-10514800	Weak transcription	Colonic Mucosa	Colon
3	chr11:10485000-10515200	Weak transcription	Liver	Liver
4	chr11:10486800-10515600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:10489000-10512600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:10495000-10528000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr11:10495200-10530800	Strong transcription	Primary T cells from cord blood	blood
8	chr11:10495600-10516400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:10495800-10529800	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:10496400-10524000	Strong transcription	Primary hematopoietic stem cells	blood
11	chr11:10496600-10529000	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr11:10498600-10514400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:10498800-10522000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr11:10498800-10522200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr11:10499000-10514600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:10499200-10513000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:10499800-10523600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:10500000-10512400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:10501600-10550600	Weak transcription	Small Intestine	intestine
20	chr11:10501800-10512400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:10502200-10522600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:10502600-10529000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:10502600-10560800	Weak transcription	Fetal Brain Male	brain
24	chr11:10504000-10517800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr11:10505400-10516200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:10507800-10544800	Weak transcription	Fetal Kidney	kidney
27	chr11:10508800-10514200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr11:10509000-10513000	Enhancers	HMEC	breast
29	chr11:10509000-10517000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr11:10509200-10512400	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:10509400-10512600	Genic enhancers	Primary B cells from peripheral blood	blood
32	chr11:10509600-10512800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:10509600-10512800	Enhancers	Esophagus	oesophagus
34	chr11:10509600-10513000	Enhancers	Placenta	Placenta
35	chr11:10509800-10513200	Genic enhancers	Lung	lung
36	chr11:10510000-10512400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:10510000-10513200	Genic enhancers	Spleen	Spleen
38	chr11:10510000-10514200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:10510000-10514200	Weak transcription	Fetal Stomach	stomach
40	chr11:10510000-10521800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr11:10510200-10514200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr11:10510200-10520000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:10510400-10512600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:10510400-10524800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr11:10510400-10528200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:10510600-10527800	Strong transcription	Thymus	Thymus
47	chr11:10510800-10512400	Enhancers	Brain Substantia Nigra	brain
48	chr11:10510800-10512800	Enhancers	Stomach Mucosa	stomach
49	chr11:10510800-10512800	Weak transcription	Dnd41	blood
50	chr11:10510800-10512800	Enhancers	HepG2	liver

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