Variant report

Variant	rs58787134
Chromosome Location	chr2:74073106-74073107
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:74071679..74074362-chr2:74210863..74213464,2	K562	blood:
2	chr2:74055980..74060254-chr2:74070607..74073353,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235499	Chromatin interaction
ENSG00000124356	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10167667	0.91[ASN][1000 genomes]
rs10202343	0.91[ASN][1000 genomes]
rs1055888	0.86[ASN][1000 genomes]
rs11126419	0.88[ASN][1000 genomes]
rs11897051	0.91[ASN][1000 genomes]
rs12614068	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12618950	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12623504	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13012471	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13414927	0.91[ASN][1000 genomes]
rs13418993	0.91[ASN][1000 genomes]
rs13419314	0.91[ASN][1000 genomes]
rs13432600	0.91[ASN][1000 genomes]
rs17009396	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17009399	0.97[ASN][1000 genomes]
rs17009404	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3738845	0.88[ASN][1000 genomes]
rs56665235	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56875063	0.83[ASN][1000 genomes]
rs59974236	0.83[ASN][1000 genomes]
rs60987687	0.82[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	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72917413	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72917415	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72917417	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72917422	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7572565	0.97[ASN][1000 genomes]
rs7579755	0.91[ASN][1000 genomes]
rs7592693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7609273	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919629	0.89[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	chr2:74060400-74074200	Weak transcription	Fetal Brain Male	brain
4	chr2:74060400-74076800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:74064000-74074000	Weak transcription	Esophagus	oesophagus
6	chr2:74064000-74074600	Weak transcription	Fetal Heart	heart
7	chr2:74064000-74079200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:74065000-74094400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:74065600-74094400	Strong transcription	Dnd41	blood
10	chr2:74066200-74083600	Strong transcription	Primary B cells from peripheral blood	blood
11	chr2:74066400-74091600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:74066400-74094400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr2:74066600-74094200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:74066600-74094400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:74066800-74078200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:74066800-74094200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:74067000-74076200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:74067000-74078000	Strong transcription	NHEK	skin
19	chr2:74067000-74078200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:74067000-74094200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:74068000-74078400	Weak transcription	HUVEC	blood vessel
22	chr2:74068400-74079000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:74068400-74084800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr2:74068600-74078200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:74068600-74094200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:74068800-74094400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:74068800-74094400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:74069600-74074400	Weak transcription	Gastric	stomach
29	chr2:74069600-74074600	Weak transcription	Pancreas	Pancrea
30	chr2:74069600-74074600	Weak transcription	Small Intestine	intestine
31	chr2:74069600-74083400	Strong transcription	GM12878-XiMat	blood
32	chr2:74069600-74084200	Weak transcription	Stomach Mucosa	stomach
33	chr2:74069800-74074400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr2:74070000-74073600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:74070400-74090000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:74070600-74094200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:74070800-74089600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:74070800-74093000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:74070800-74094200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr2:74070800-74094200	Strong transcription	Liver	Liver
41	chr2:74070800-74094400	Strong transcription	Placenta	Placenta
42	chr2:74070800-74094400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr2:74071000-74075600	Strong transcription	Primary B cells from cord blood	blood
44	chr2:74071000-74079200	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:74071000-74085200	Strong transcription	Brain Hippocampus Middle	brain
46	chr2:74071000-74094400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:74071200-74075200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:74071200-74076800	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:74071200-74078200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:74071200-74081200	Strong transcription	Brain Germinal Matrix	brain

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