Variant report

Variant	rs12290699
Chromosome Location	chr11:120195702-120195703
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	MAZ	chr11:120195689-120196562	K562	blood:	n/a	chr11:120195846-120195856
2	ZNF143	chr11:120195450-120196463	H1-hESC	embryonic stem cell:	n/a	chr11:120196021-120196039 chr11:120196334-120196352
3	TBP	chr11:120195559-120196611	H1-hESC	embryonic stem cell:	n/a	n/a
4	RCOR1	chr11:120195670-120196723	K562	blood:	n/a	n/a
5	FOXA2	chr11:120195563-120196244	A549	lung:	n/a	chr11:120195775-120195787
6	USF2	chr11:120195661-120195852	Hela-S3	cervix:	n/a	n/a
7	SP4	chr11:120195594-120196082	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr11:120195587-120196630	HepG2	liver:	n/a	chr11:120195846-120195856
9	POLR2A	chr11:120195353-120196784	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr11:120195449-120196655	A549	lung:	n/a	chr11:120195846-120195856
11	SP4	chr11:120195692-120196211	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3A	chr11:120195463-120196663	H1-hESC	embryonic stem cell:	n/a	chr11:120196149-120196160 chr11:120196026-120196035
13	TCF12	chr11:120195661-120196443	ECC-1	luminal epithelium:	n/a	n/a
14	ZNF143	chr11:120195587-120196148	GM12878	blood:	n/a	chr11:120196021-120196039
15	RAD21	chr11:120195699-120196207	H1-hESC	embryonic stem cell:	n/a	chr11:120195928-120195937 chr11:120195927-120195946 chr11:120195928-120195942 chr11:120195808-120195817
16	POLR2A	chr11:120195585-120196567	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr11:120195531-120197490	Hela-S3	cervix:	n/a	n/a
18	CREB1	chr11:120195697-120196208	GM12878	blood:	n/a	n/a
19	JUND	chr11:120195465-120196176	H1-hESC	embryonic stem cell:	n/a	chr11:120195845-120195854
20	SMC3	chr11:120195696-120196307	Hela-S3	cervix:	n/a	n/a
21	SP1	chr11:120195567-120196254	H1-hESC	embryonic stem cell:	n/a	chr11:120195748-120195757
22	E2F6	chr11:120195419-120196561	H1-hESC	embryonic stem cell:	n/a	chr11:120195867-120195879 chr11:120196231-120196241
23	MTA3	chr11:120195485-120196566	GM12878	blood:	n/a	n/a
24	ZNF263	chr11:120195546-120197048	HEK293-T-REx	kidney:	n/a	chr11:120196140-120196149
25	CREB1	chr11:120195585-120196367	H1-hESC	embryonic stem cell:	n/a	n/a
26	ATF2	chr11:120195590-120196146	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZKSCAN1	chr11:120195538-120196440	Hela-S3	cervix:	n/a	n/a
28	MAX	chr11:120195518-120195771	H1-hESC	embryonic stem cell:	n/a	n/a
29	ZBTB7A	chr11:120195671-120196215	ECC-1	luminal epithelium:	n/a	n/a
30	RFX5	chr11:120195580-120197273	Hela-S3	cervix:	n/a	n/a
31	MAX	chr11:120195422-120196526	SK-N-SH	brain:	n/a	chr11:120195846-120195856
32	MXI1	chr11:120195544-120196674	GM12878	blood:	n/a	n/a
33	MAZ	chr11:120195450-120196263	GM12878	blood:	n/a	chr11:120195846-120195856
34	ZBTB7A	chr11:120195556-120196260	ECC-1	luminal epithelium:	n/a	n/a
35	TBP	chr11:120195610-120197304	Hela-S3	cervix:	n/a	n/a
36	CREB1	chr11:120195522-120196504	H1-hESC	embryonic stem cell:	n/a	n/a
37	FOXA1	chr11:120195600-120196059	T-47D	breast:	n/a	chr11:120195775-120195787
38	MAX	chr11:120195413-120196597	H1-hESC	embryonic stem cell:	n/a	chr11:120195846-120195856
39	POLR2A	chr11:120195667-120196880	PANC-1	pancreas:	n/a	n/a
40	RCOR1	chr11:120195599-120196424	HepG2	liver:	n/a	n/a
41	POLR2A	chr11:120195658-120196680	HUVEC	blood vessel:	n/a	n/a
42	REST	chr11:120195427-120196835	H1-neurons	neurons:	n/a	chr11:120196025-120196035
43	TAF1	chr11:120195545-120196593	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr11:120195700-120195850	AG04450	lung:	n/a	n/a
45	SP1	chr11:120195698-120196110	H1-hESC	embryonic stem cell:	n/a	chr11:120195748-120195757
46	MAX	chr11:120195471-120196596	SK-N-SH	brain:	n/a	chr11:120195846-120195856
47	POLR2A	chr11:120195597-120196531	PFSK-1	brain:	n/a	n/a
48	MYC	chr11:120195409-120196000	H1-hESC	embryonic stem cell:	n/a	chr11:120195846-120195856
49	MXI1	chr11:120195553-120196125	H1-hESC	embryonic stem cell:	n/a	n/a
50	HCFC1	chr11:120195597-120196822	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:120105900..120109423-chr11:120193866..120196780,3	MCF-7	breast:
2	chr11:62623012..62623850-chr11:120195599..120196190,2	HCT-116	colon:
3	chr11:120186835..120191514-chr11:120193209..120197461,6	MCF-7	breast:
4	chr11:120105812..120109397-chr11:120193833..120197413,4	K562	blood:

Variant related genes	Relation type
TMEM136	TF binding region
ENSG00000137709	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000255717	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3809058	0.80[ASN][1000 genomes]
rs61898347	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120188600-120195800	Weak transcription	Esophagus	oesophagus
2	chr11:120195200-120195800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:120195400-120195800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
4	chr11:120195400-120195800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:120195400-120195800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr11:120195400-120195800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr11:120195400-120195800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:120195400-120195800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr11:120195400-120195800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
10	chr11:120195400-120195800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr11:120195400-120195800	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr11:120195400-120195800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr11:120195400-120195800	Flanking Active TSS	Fetal Kidney	kidney
14	chr11:120195400-120195800	Flanking Active TSS	Hela-S3	cervix
15	chr11:120195400-120195800	Flanking Active TSS	NH-A	brain
16	chr11:120195400-120195800	Flanking Active TSS	NHLF	lung
17	chr11:120195400-120195800	Flanking Active TSS	Osteobl	bone
18	chr11:120195400-120196000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:120195400-120196600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
20	chr11:120195400-120196600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:120195400-120196600	Active TSS	Brain Anterior Caudate	brain
22	chr11:120195400-120196600	Active TSS	Brain Germinal Matrix	brain
23	chr11:120195400-120196600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:120195400-120196600	Active TSS	Fetal Brain Female	brain
25	chr11:120195400-120196600	Active TSS	Rectal Smooth Muscle	rectum
26	chr11:120195400-120196800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr11:120195400-120196800	Active TSS	Brain Substantia Nigra	brain
28	chr11:120195400-120197000	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr11:120195400-120197000	Active TSS	H1 Cell Line	embryonic stem cell
30	chr11:120195400-120197000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:120195400-120197000	Active TSS	Stomach Smooth Muscle	stomach
32	chr11:120195400-120197200	Active TSS	A549	lung
33	chr11:120195400-120197400	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr11:120195400-120198000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:120195400-120198000	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr11:120195600-120195800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:120195600-120195800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:120195600-120195800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:120195600-120195800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:120195600-120195800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:120195600-120195800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:120195600-120195800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
43	chr11:120195600-120195800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
44	chr11:120195600-120195800	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
45	chr11:120195600-120195800	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:120195600-120195800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr11:120195600-120195800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:120195600-120195800	Flanking Bivalent TSS/Enh	Liver	Liver
49	chr11:120195600-120195800	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr11:120195600-120195800	Flanking Active TSS	Brain Hippocampus Middle	brain

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