Variant report

Variant	rs11590967
Chromosome Location	chr1:161188587-161188588
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	YY1	chr1:161188304-161188732	HepG2	liver:	n/a	chr1:161188591-161188602
2	ZBTB7A	chr1:161188309-161188650	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:161187638-161194598	HepG2	liver:	n/a	n/a
4	REST	chr1:161188254-161188815	HepG2	liver:	n/a	n/a
5	ELF1	chr1:161188313-161188830	HepG2	liver:	n/a	n/a
6	RXRA	chr1:161188272-161188828	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:161186483-161191435	HepG2	liver:	n/a	n/a
8	ZBTB7A	chr1:161188343-161188714	HepG2	liver:	n/a	n/a
9	MAZ	chr1:161188220-161188891	HepG2	liver:	n/a	chr1:161188613-161188623
10	CEBPD	chr1:161188259-161188683	HepG2	liver:	n/a	n/a
11	ELF1	chr1:161188244-161188755	HepG2	liver:	n/a	n/a
12	SMC3	chr1:161188368-161188844	HepG2	liver:	n/a	n/a
13	FOXA1	chr1:161188218-161188760	HepG2	liver:	n/a	n/a
14	FOXA2	chr1:161188191-161188667	HepG2	liver:	n/a	n/a
15	POLR2A	chr1:161187952-161190972	HepG2	liver:	n/a	n/a
16	HDAC2	chr1:161188285-161188800	HepG2	liver:	n/a	chr1:161188468-161188482
17	MBD4	chr1:161187817-161190236	HepG2	liver:	n/a	n/a
18	HNF4G	chr1:161188210-161188882	HepG2	liver:	n/a	n/a
19	HDAC2	chr1:161188308-161188779	HepG2	liver:	n/a	chr1:161188468-161188482
20	POLR2A	chr1:161188009-161190832	HepG2	liver:	n/a	n/a
21	POLR2A	chr1:161187501-161194535	HepG2	liver:	n/a	n/a
22	CHD2	chr1:161188356-161188735	HepG2	liver:	n/a	chr1:161188590-161188600
23	TEAD4	chr1:161188113-161188898	HepG2	liver:	n/a	n/a
24	POLR2A	chr1:161187261-161194848	HepG2	liver:	n/a	n/a
25	FOXA1	chr1:161188068-161188805	HepG2	liver:	n/a	n/a
26	POLR2A	chr1:161188237-161188870	HepG2	liver:	n/a	n/a
27	HNF4A	chr1:161188286-161188725	HepG2	liver:	n/a	n/a
28	HNF4G	chr1:161188242-161188777	HepG2	liver:	n/a	n/a
29	HEY1	chr1:161187665-161190931	HepG2	liver:	n/a	n/a
30	EP300	chr1:161188368-161188699	HepG2	liver:	n/a	chr1:161188584-161188600
31	EP300	chr1:161188201-161188732	HepG2	liver:	n/a	chr1:161188584-161188600
32	FOXA1	chr1:161187973-161188773	HepG2	liver:	n/a	n/a
33	HEY1	chr1:161187602-161194631	HepG2	liver:	n/a	n/a
34	HNF4A	chr1:161188287-161188770	HepG2	liver:	n/a	n/a
35	TCF12	chr1:161188313-161188746	HepG2	liver:	n/a	n/a
36	MYBL2	chr1:161187930-161191444	HepG2	liver:	n/a	n/a
37	SP1	chr1:161188174-161188887	HepG2	liver:	n/a	chr1:161188591-161188600 chr1:161188587-161188601 chr1:161188590-161188602 chr1:161188612-161188624 chr1:161188612-161188624 chr1:161188613-161188623 chr1:161188609-161188623 chr1:161188590-161188602
38	MYC	chr1:161188286-161188735	HepG2	liver:	n/a	chr1:161188613-161188623
39	JUND	chr1:161188370-161188811	HepG2	liver:	n/a	n/a
40	MBD4	chr1:161188118-161189543	HepG2	liver:	n/a	n/a
41	ELF1	chr1:161188442-161188597	K562	blood:	n/a	n/a
42	REST	chr1:161188405-161188774	HepG2	liver:	n/a	n/a
43	ARID3A	chr1:161188006-161189463	HepG2	liver:	n/a	n/a
44	JUND	chr1:161188292-161188808	HepG2	liver:	n/a	n/a
45	MYBL2	chr1:161188023-161190176	HepG2	liver:	n/a	n/a
46	NFIC	chr1:161188221-161189425	HepG2	liver:	n/a	n/a
47	NFIC	chr1:161187871-161189330	HepG2	liver:	n/a	n/a
48	POLR2A	chr1:161187913-161190189	HepG2	liver:	n/a	n/a
49	EP300	chr1:161188142-161188868	HepG2	liver:	n/a	chr1:161188584-161188600
50	FOXA1	chr1:161188147-161188787	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:161187330..161192033-chr1:161197583..161201870,4	K562	blood:
2	chr1:161187686..161190489-chr1:161204186..161207080,2	K562	blood:
3	chr1:161185948..161188924-chr1:161331742..161333361,2	K562	blood:
4	chr1:161168408..161172447-chr1:161188045..161190714,3	K562	blood:
5	chr1:161167824..161171271-chr1:161185300..161189545,6	K562	blood:

Variant related genes	Relation type
ENSG00000268387	TF binding region
ENSG00000158864	Chromatin interaction
ENSG00000143257	Chromatin interaction
ENSG00000158859	Chromatin interaction
ENSG00000158882	Chromatin interaction

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

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

rs_ID	r²[population]
rs3402	0.83[AFR][1000 genomes]
rs72714913	0.83[AFR][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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv482136	chr1:161185087-161189038	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161172800-161193600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:161182400-161193800	Weak transcription	Small Intestine	intestine
3	chr1:161184200-161190200	Weak transcription	Psoas Muscle	Psoas
4	chr1:161184400-161195000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:161184400-161195000	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:161184400-161195000	Weak transcription	NHEK	skin
7	chr1:161184600-161195000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:161184600-161195000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:161184600-161195000	Weak transcription	Brain Substantia Nigra	brain
10	chr1:161184600-161195800	Weak transcription	Aorta	Aorta
11	chr1:161184600-161195800	Weak transcription	Esophagus	oesophagus
12	chr1:161185000-161194800	Weak transcription	Dnd41	blood
13	chr1:161185000-161195000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:161185200-161195000	Weak transcription	A549	lung
15	chr1:161185200-161195200	Weak transcription	Thymus	Thymus
16	chr1:161185400-161195200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:161185400-161195200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:161185400-161195200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:161185600-161195000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:161185600-161195200	Weak transcription	HMEC	breast
21	chr1:161185800-161190800	Enhancers	K562	blood
22	chr1:161185800-161192400	Weak transcription	Fetal Stomach	stomach
23	chr1:161185800-161195000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:161185800-161195800	Enhancers	Fetal Intestine Large	intestine
25	chr1:161186000-161194000	Weak transcription	Gastric	stomach
26	chr1:161186000-161195200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:161186200-161188600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:161186200-161190200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr1:161186400-161188600	Enhancers	Primary B cells from peripheral blood	blood
30	chr1:161186400-161190000	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr1:161186400-161190800	Flanking Active TSS	HepG2	liver
32	chr1:161186400-161191000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:161186600-161188600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:161186600-161190800	Enhancers	Fetal Intestine Small	intestine
35	chr1:161186600-161194000	Weak transcription	Stomach Mucosa	stomach
36	chr1:161186800-161189000	Weak transcription	Fetal Brain Female	brain
37	chr1:161186800-161190200	Enhancers	Primary T cells from cord blood	blood
38	chr1:161186800-161194800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:161186800-161195000	Weak transcription	Brain Angular Gyrus	brain
40	chr1:161187000-161189200	Enhancers	Fetal Thymus	thymus
41	chr1:161187000-161189400	Enhancers	Liver	Liver
42	chr1:161187000-161190000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr1:161187000-161190000	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr1:161187000-161191800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:161187000-161195000	Weak transcription	Fetal Lung	lung
46	chr1:161187200-161188800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:161187200-161189000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:161187200-161189200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:161187200-161189800	Enhancers	Primary T cells fromperipheralblood	blood
50	chr1:161187400-161189000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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