Variant report

Variant	rs737027
Chromosome Location	chr2:233641083-233641084
allele	C/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	TEAD4	chr2:233641072-233641475	MCF-7	breast:	n/a	n/a
2	TCF7L2	chr2:233640791-233641384	HEK293	kidney:	n/a	n/a
3	TCF12	chr2:233640945-233641554	MCF-7	breast:	n/a	n/a
4	JUND	chr2:233640975-233641430	T-47D	breast:	n/a	n/a
5	MAFK	chr2:233641083-233641271	HepG2	liver:	n/a	chr2:233641165-233641180
6	SIN3AK20	chr2:233640987-233641571	MCF-7	breast:	n/a	n/a
7	GATA3	chr2:233641004-233641509	T-47D	breast:	n/a	n/a
8	GATA3	chr2:233641077-233641415	MCF-7	breast:	n/a	n/a
9	EP300	chr2:233640961-233641467	T-47D	breast:	n/a	n/a
10	ZNF217	chr2:233641062-233641448	MCF-7	breast:	n/a	n/a
11	MAFF	chr2:233641072-233641290	HepG2	liver:	n/a	chr2:233641164-233641182
12	FOXA1	chr2:233641050-233641458	T-47D	breast:	n/a	n/a
13	TEAD4	chr2:233641074-233641564	ECC-1	luminal epithelium:	n/a	n/a
14	EP300	chr2:233641082-233641592	ECC-1	luminal epithelium:	n/a	chr2:233641520-233641534
15	SIN3AK20	chr2:233640918-233641617	MCF-7	breast:	n/a	n/a
16	MAFK	chr2:233641015-233641329	HepG2	liver:	n/a	chr2:233641165-233641180
17	FOXA1	chr2:233641024-233641414	T-47D	breast:	n/a	n/a
18	GATA3	chr2:233641013-233641624	MCF-7	breast:	n/a	n/a
19	EP300	chr2:233641045-233641437	MCF-7	breast:	n/a	n/a
20	TEAD4	chr2:233641082-233641537	ECC-1	luminal epithelium:	n/a	n/a
21	EP300	chr2:233641031-233641443	T-47D	breast:	n/a	n/a
22	SP1	chr2:233641080-233641476	H1-hESC	embryonic stem cell:	n/a	n/a
23	GATA3	chr2:233640853-233641760	MCF-7	breast:	n/a	chr2:233640989-233641000 chr2:233641681-233641691
24	GATA3	chr2:233640980-233641511	T-47D	breast:	n/a	chr2:233640989-233641000
25	MAFK	chr2:233641022-233641330	IMR90	lung:	n/a	chr2:233641165-233641180

No.	Distal block	Cell Line	Cell type
1	chr2:233640072..233641665-chr2:233646228..233648024,2	K562	blood:
2	chr1:198125307..198127521-chr2:233640176..233642520,2	MCF-7	breast:
3	chr2:233627414..233629760-chr2:233639796..233641450,2	MCF-7	breast:
4	chr2:233635753..233637631-chr2:233640086..233642797,2	K562	blood:

Variant related genes	Relation type
GIGYF2	TF binding region
KCNJ13	TF binding region
ENSG00000252452	Chromatin interaction
ENSG00000151414	Chromatin interaction
ENSG00000115474	Chromatin interaction
ENSG00000204120	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10210953	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1022329	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10427328	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1078323	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs1083522	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs10933406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1104764	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11535	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs11688166	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs11689851	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs11893358	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12105766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12619195	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12993791	0.81[EUR][1000 genomes]
rs12999865	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13001052	0.80[EUR][1000 genomes]
rs13007579	0.92[CEU][hapmap]
rs13024330	0.92[CEU][hapmap]
rs13029336	0.83[JPT][hapmap]
rs1515961	0.83[JPT][hapmap]
rs17164	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs1973675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2289911	0.92[CEU][hapmap]
rs2293780	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2344611	0.83[EUR][1000 genomes]
rs2344613	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs2592104	0.86[EUR][1000 genomes]
rs2675954	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2675968	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs2675972	0.81[EUR][1000 genomes]
rs283470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs283473	0.83[JPT][hapmap]
rs283487	0.88[EUR][1000 genomes]
rs35491427	0.81[EUR][1000 genomes]
rs4973563	0.92[CEU][hapmap]
rs4973564	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs62193269	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62193271	0.82[EUR][1000 genomes]
rs6704763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6710294	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6716488	0.84[EUR][1000 genomes]
rs6717048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6733495	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6739794	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs709937	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs748002	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs778341	0.95[YRI][hapmap]
rs778370	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs921055	0.92[CEU][hapmap]
rs938569	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs974321	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv460134	chr2:233639909-233714686	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv584696	chr2:233639909-233714686	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233585200-233655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:233611600-233645600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:233612000-233644600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr2:233614600-233643600	Weak transcription	Small Intestine	intestine
5	chr2:233621400-233644400	Strong transcription	Liver	Liver
6	chr2:233627800-233645000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:233628600-233644200	Weak transcription	Ovary	ovary
8	chr2:233628600-233655400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:233629200-233655800	Weak transcription	Colonic Mucosa	Colon
10	chr2:233629400-233642000	Weak transcription	Gastric	stomach
11	chr2:233629400-233644200	Weak transcription	Right Ventricle	heart
12	chr2:233629400-233649600	Weak transcription	Spleen	Spleen
13	chr2:233629400-233652600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:233629400-233655200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:233629400-233655400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:233630800-233641200	Weak transcription	Brain Anterior Caudate	brain
17	chr2:233631600-233659200	Weak transcription	Psoas Muscle	Psoas
18	chr2:233633400-233652600	Weak transcription	Brain Germinal Matrix	brain
19	chr2:233633600-233649600	Weak transcription	Pancreas	Pancrea
20	chr2:233634000-233643400	Weak transcription	Fetal Heart	heart
21	chr2:233635600-233643200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:233636000-233642000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:233636200-233641200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:233636200-233641200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:233636200-233643200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:233636200-233643600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:233636200-233644200	Weak transcription	HMEC	breast
28	chr2:233636200-233646200	Weak transcription	HSMMtube	muscle
29	chr2:233636200-233646400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr2:233636200-233646400	Weak transcription	K562	blood
31	chr2:233636200-233649600	Weak transcription	Aorta	Aorta
32	chr2:233636200-233649600	Weak transcription	Lung	lung
33	chr2:233636200-233650000	Weak transcription	Fetal Brain Male	brain
34	chr2:233636200-233651400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:233636200-233655200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr2:233636200-233655200	Weak transcription	NHLF	lung
37	chr2:233636200-233655400	Weak transcription	Esophagus	oesophagus
38	chr2:233636400-233643600	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:233636400-233649200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:233636400-233651800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr2:233636400-233651800	Weak transcription	NH-A	brain
42	chr2:233636400-233655000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:233636600-233643400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:233636800-233642000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:233636800-233650000	Weak transcription	Osteobl	bone
46	chr2:233637000-233649400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:233637000-233651000	Weak transcription	Left Ventricle	heart
48	chr2:233637000-233652600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:233637200-233641200	Weak transcription	HepG2	liver
50	chr2:233637400-233643600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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