Variant report

Variant	rs12614068
Chromosome Location	chr2:74071046-74071047
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:74068490..74071412-chr2:74080707..74082574,2	K562	blood:
2	chr2:74055980..74060254-chr2:74070607..74073353,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124356	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10167667	0.91[ASN][1000 genomes]
rs10202343	0.91[ASN][1000 genomes]
rs1055888	0.86[ASN][1000 genomes]
rs11126419	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11897051	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12105840	0.82[AMR][1000 genomes]
rs12618950	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12623504	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13012471	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13414927	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13418993	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13419314	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13432600	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17009396	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17009399	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17009404	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3738845	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs56665235	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56875063	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58787134	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59974236	0.83[ASN][1000 genomes]
rs60987687	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61314551	0.83[ASN][1000 genomes]
rs72915479	0.97[ASN][1000 genomes]
rs72917405	0.86[ASN][1000 genomes]
rs72917409	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72917413	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72917415	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72917417	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72917422	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7572565	0.97[ASN][1000 genomes]
rs7579755	0.91[ASN][1000 genomes]
rs7592693	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7609273	1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919629	0.81[AMR][1000 genomes];0.86[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	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv834260	chr2:73906106-74076520	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74057000-74076200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:74057000-74093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:74057600-74071400	Weak transcription	Fetal Kidney	kidney
4	chr2:74058000-74071200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:74058600-74071400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:74060000-74071400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:74060000-74072000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:74060400-74071200	Weak transcription	Hela-S3	cervix
9	chr2:74060400-74071600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:74060400-74073000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:74060400-74074200	Weak transcription	Fetal Brain Male	brain
12	chr2:74060400-74076800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:74061000-74071400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:74062000-74071600	Weak transcription	Fetal Lung	lung
15	chr2:74062200-74071400	Weak transcription	NHLF	lung
16	chr2:74062200-74071800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:74063800-74071400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:74064000-74071400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:74064000-74071600	Weak transcription	Left Ventricle	heart
20	chr2:74064000-74071800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:74064000-74071800	Weak transcription	Lung	lung
22	chr2:74064000-74071800	Weak transcription	Thymus	Thymus
23	chr2:74064000-74071800	Weak transcription	Spleen	Spleen
24	chr2:74064000-74072000	Weak transcription	Aorta	Aorta
25	chr2:74064000-74072000	Weak transcription	Right Ventricle	heart
26	chr2:74064000-74072600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:74064000-74074000	Weak transcription	Esophagus	oesophagus
28	chr2:74064000-74074600	Weak transcription	Fetal Heart	heart
29	chr2:74064000-74079200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:74064200-74071600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:74064200-74071800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:74064200-74072600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:74064400-74071200	Weak transcription	Fetal Brain Female	brain
34	chr2:74064600-74071600	Weak transcription	Fetal Stomach	stomach
35	chr2:74065000-74094400	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:74065600-74071400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:74065600-74094400	Strong transcription	Dnd41	blood
38	chr2:74065800-74071600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:74066200-74083600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr2:74066400-74091600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:74066400-74094400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr2:74066600-74071200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:74066600-74094200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:74066600-74094400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:74066800-74078200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:74066800-74094200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:74067000-74071600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:74067000-74071800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:74067000-74073000	Weak transcription	Psoas Muscle	Psoas
50	chr2:74067000-74076200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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