Variant report

Variant	rs34737670
Chromosome Location	chr2:64248808-64248809
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	NFIC	chr2:64248536-64249241	HepG2	liver:	n/a	n/a
2	FOXA1	chr2:64248632-64249175	HepG2	liver:	n/a	chr2:64248969-64248981 chr2:64248967-64248982
3	FOXA1	chr2:64248777-64249014	T-47D	breast:	n/a	chr2:64248969-64248981 chr2:64248967-64248982
4	FOXM1	chr2:64248510-64249421	MCF-7	breast:	n/a	n/a
5	SIN3AK20	chr2:64248575-64249309	MCF-7	breast:	n/a	n/a
6	FOXA1	chr2:64248484-64249221	HepG2	liver:	n/a	chr2:64248969-64248981 chr2:64248967-64248982
7	NR2F2	chr2:64248677-64249317	MCF-7	breast:	n/a	n/a
8	SIN3AK20	chr2:64248664-64249338	MCF-7	breast:	n/a	n/a
9	FOXA1	chr2:64248538-64249175	A549	lung:	n/a	chr2:64248969-64248981 chr2:64248967-64248982
10	FOXA2	chr2:64248257-64249496	HepG2	liver:	n/a	chr2:64248969-64248981
11	EP300	chr2:64248769-64248999	K562	blood:	n/a	chr2:64248979-64248993 chr2:64248972-64248982
12	EP300	chr2:64248679-64249212	HepG2	liver:	n/a	chr2:64248979-64248993 chr2:64248972-64248982
13	JUND	chr2:64248658-64249288	MCF-7	breast:	n/a	chr2:64249160-64249172
14	GATA3	chr2:64248617-64249144	T-47D	breast:	n/a	n/a
15	GATA3	chr2:64248641-64249120	A549	lung:	n/a	n/a
16	FOXA1	chr2:64248688-64249162	T-47D	breast:	n/a	chr2:64248969-64248981 chr2:64248967-64248982
17	HDAC2	chr2:64248674-64249095	MCF-7	breast:	n/a	chr2:64248972-64248981
18	GATA3	chr2:64248529-64249561	MCF-7	breast:	n/a	n/a
19	ARID3A	chr2:64248789-64249124	HepG2	liver:	n/a	n/a
20	FOXA2	chr2:64248763-64249149	HepG2	liver:	n/a	chr2:64248969-64248981
21	FOXA1	chr2:64248663-64249137	HepG2	liver:	n/a	chr2:64248969-64248981 chr2:64248967-64248982
22	TEAD4	chr2:64248638-64249133	MCF-7	breast:	n/a	n/a
23	FOXA2	chr2:64248652-64249299	A549	lung:	n/a	chr2:64248969-64248981
24	NR3C1	chr2:64248687-64248985	A549	lung:	n/a	n/a
25	GATA3	chr2:64248610-64249296	MCF-7	breast:	n/a	n/a
26	TCF12	chr2:64248508-64249224	A549	lung:	n/a	n/a
27	FOXA1	chr2:64248519-64249263	HepG2	liver:	n/a	chr2:64248969-64248981 chr2:64248967-64248982
28	GATA3	chr2:64248747-64249179	T-47D	breast:	n/a	n/a
29	MYBL2	chr2:64248590-64249205	HepG2	liver:	n/a	n/a
30	SP1	chr2:64248687-64249102	A549	lung:	n/a	n/a
31	RCOR1	chr2:64248804-64248934	K562	blood:	n/a	n/a
32	EP300	chr2:64248728-64249183	T-47D	breast:	n/a	chr2:64248979-64248993 chr2:64248972-64248982
33	TCF12	chr2:64248597-64249121	MCF-7	breast:	n/a	n/a
34	NR3C1	chr2:64248670-64249079	A549	lung:	n/a	chr2:64248993-64249019

No.	Distal block	Cell Line	Cell type
1	chr2:64247077..64249106-chr20:57556171..57557833,2	MCF-7	breast:
2	chr2:64246663..64249169-chr2:64259470..64260972,2	K562	blood:
3	chr2:64246955..64249358-chr2:64255526..64257239,3	K562	blood:
4	chr2:64226896..64229641-chr2:64246459..64249027,4	K562	blood:
5	chr2:64245996..64247858-chr2:64247865..64250150,3	K562	blood:

Variant related genes	Relation type
VPS54	TF binding region
ENSG00000143952	Chromatin interaction
ENSG00000101158	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13032357	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17701941	0.83[ASN][1000 genomes]
rs17752868	0.83[ASN][1000 genomes]
rs71422399	0.84[EUR][1000 genomes]
rs71422401	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2763643	chr2:64219887-64281337	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64247000-64250800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:64247200-64249000	Enhancers	Primary hematopoietic stem cells	blood
3	chr2:64247200-64249000	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr2:64247200-64249000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:64247200-64249000	Enhancers	Fetal Lung	lung
6	chr2:64247200-64249000	Enhancers	NHDF-Ad	bronchial
7	chr2:64247200-64249200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr2:64247200-64249200	Enhancers	Liver	Liver
9	chr2:64247200-64249400	Enhancers	HUVEC	blood vessel
10	chr2:64247200-64250800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:64247200-64250800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:64247200-64251000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:64247200-64251000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:64247200-64251000	Weak transcription	Fetal Thymus	thymus
15	chr2:64247200-64251000	Weak transcription	Pancreas	Pancrea
16	chr2:64247200-64251000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:64247200-64254200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:64247400-64249000	Enhancers	K562	blood
19	chr2:64247400-64249200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:64247400-64249200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr2:64247400-64250800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:64247400-64250800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:64247400-64250800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:64247400-64250800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:64247400-64250800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:64247400-64253000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr2:64247400-64253800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:64247600-64249000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:64247600-64249200	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr2:64247600-64250600	Enhancers	HepG2	liver
31	chr2:64247600-64250800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:64247600-64251000	Weak transcription	GM12878-XiMat	blood
33	chr2:64247600-64262800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:64247800-64250800	Weak transcription	Fetal Intestine Small	intestine
35	chr2:64247800-64250800	Weak transcription	Dnd41	blood
36	chr2:64248000-64249000	Enhancers	Duodenum Mucosa	Duodenum
37	chr2:64248000-64251000	Weak transcription	Thymus	Thymus
38	chr2:64248000-64252600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:64248400-64249000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr2:64248400-64249400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:64248400-64250800	Weak transcription	Small Intestine	intestine
42	chr2:64248400-64252600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr2:64248600-64249000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr2:64248600-64249000	Enhancers	Primary B cells from peripheral blood	blood
45	chr2:64248600-64249000	Enhancers	Primary T cells from cord blood	blood
46	chr2:64248600-64249000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:64248600-64249000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:64248600-64249000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:64248600-64249000	Enhancers	Fetal Intestine Large	intestine
50	chr2:64248600-64249200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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