Variant report

Variant	rs12234230
Chromosome Location	chr7:65597770-65597771
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	chr7:65595422..65597949-chr7:65600774..65602540,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11560207	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2859839	0.85[AMR][1000 genomes]
rs3823606	0.85[AMR][1000 genomes]
rs4149460	0.85[AMR][1000 genomes]
rs58976916	0.83[ASN][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	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv607408	chr7:65590561-65599196	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv971489	chr7:65590579-65614004	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv607413	chr7:65591081-65599196	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 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	chr7:65580600-65600600	Weak transcription	Aorta	Aorta
2	chr7:65580800-65606800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:65581000-65617200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:65581600-65604800	Weak transcription	Colonic Mucosa	Colon
5	chr7:65582400-65608200	Weak transcription	Fetal Brain Male	brain
6	chr7:65585400-65604400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:65587800-65606600	Weak transcription	Stomach Mucosa	stomach
8	chr7:65589800-65599600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:65590800-65613400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:65591600-65599800	Weak transcription	HSMMtube	muscle
11	chr7:65591600-65607200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:65592400-65599200	Weak transcription	Fetal Heart	heart
13	chr7:65594000-65603400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:65594400-65598200	Strong transcription	Duodenum Mucosa	Duodenum
15	chr7:65594600-65598200	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:65594600-65604000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:65594600-65604000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:65594600-65610800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:65594800-65598400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr7:65594800-65606200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr7:65594800-65612200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:65594800-65614400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr7:65595000-65604000	Weak transcription	HUVEC	blood vessel
24	chr7:65595000-65614400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr7:65595000-65614600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:65595000-65615200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:65595200-65597800	Strong transcription	Brain Anterior Caudate	brain
28	chr7:65595200-65597800	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr7:65595200-65598200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr7:65595200-65598200	Strong transcription	Adipose Nuclei	Adipose
31	chr7:65595200-65598200	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr7:65595200-65598400	Strong transcription	Fetal Intestine Small	intestine
33	chr7:65595200-65600600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:65595200-65602000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:65595200-65602200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:65595200-65602400	Strong transcription	Fetal Intestine Large	intestine
37	chr7:65595200-65605000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:65595200-65606200	Strong transcription	Fetal Muscle Leg	muscle
39	chr7:65595200-65613600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr7:65595200-65614000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:65595200-65622000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:65595400-65598200	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:65595400-65598400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr7:65595400-65599400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:65595400-65599600	Strong transcription	Liver	Liver
46	chr7:65595400-65603600	Strong transcription	Fetal Thymus	thymus
47	chr7:65595600-65597800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:65595600-65598200	Strong transcription	Placenta	Placenta
49	chr7:65595600-65598400	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr7:65595600-65598400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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