Variant report

Variant	rs12612238
Chromosome Location	chr2:113424632-113424633
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113421512..113426143-chr2:113441172..113445759,7	K562	blood:
2	chr2:113423200..113424917-chr2:113426648..113428769,2	MCF-7	breast:
3	chr2:113423857..113425898-chr2:113478111..113480548,2	K562	blood:
4	chr14:103058550..103061482-chr2:113422635..113424656,2	MCF-7	breast:
5	chr2:113422885..113426187-chr2:113430296..113432914,4	K562	blood:
6	chr2:113423910..113425934-chr2:113475592..113478150,2	K562	blood:
7	chr2:113422747..113425498-chr2:113447887..113450877,2	K562	blood:
8	chr2:113422855..113425546-chr2:113428283..113429870,2	K562	blood:
9	chr2:113419485..113422218-chr2:113423311..113426993,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000144130	Chromatin interaction
ENSG00000089902	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10167360	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10172772	0.81[ASN][1000 genomes]
rs10184339	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10758	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10779885	0.97[ASN][1000 genomes]
rs11123146	0.98[ASN][1000 genomes]
rs11676751	0.81[ASN][1000 genomes]
rs11680181	0.81[ASN][1000 genomes]
rs11889567	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12467747	0.97[ASN][1000 genomes]
rs12475403	0.98[ASN][1000 genomes]
rs12612089	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12618806	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2048873	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34282612	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3827758	0.95[ASN][1000 genomes]
rs4261730	0.97[ASN][1000 genomes]
rs4848287	0.81[ASN][1000 genomes]
rs4849091	0.81[ASN][1000 genomes]
rs4849097	1.00[ASN][1000 genomes]
rs58662040	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60372418	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6542074	0.87[ASN][1000 genomes]
rs72823516	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7371700	1.00[ASN][1000 genomes]
rs9308674	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9308675	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9308676	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv470480	chr2:113373950-113429752	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113411200-113428200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:113417200-113425400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:113417400-113426800	Weak transcription	Fetal Heart	heart
4	chr2:113417600-113426000	Weak transcription	Esophagus	oesophagus
5	chr2:113418800-113428600	Weak transcription	Brain Substantia Nigra	brain
6	chr2:113419600-113431200	Weak transcription	Aorta	Aorta
7	chr2:113420400-113424800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:113420800-113424800	Strong transcription	A549	lung
9	chr2:113420800-113426000	Weak transcription	Gastric	stomach
10	chr2:113420800-113431200	Weak transcription	Primary B cells from cord blood	blood
11	chr2:113421000-113426200	Weak transcription	Brain Anterior Caudate	brain
12	chr2:113421200-113425600	Weak transcription	Right Ventricle	heart
13	chr2:113421200-113431400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:113421400-113448400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:113421600-113427200	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:113421600-113429400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:113421600-113429400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:113421600-113438400	Weak transcription	Psoas Muscle	Psoas
19	chr2:113421800-113424800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:113422000-113426000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:113422200-113432000	Weak transcription	Left Ventricle	heart
22	chr2:113422400-113426200	Weak transcription	Colonic Mucosa	Colon
23	chr2:113422400-113427000	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:113422600-113429400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:113422600-113431600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr2:113422600-113432000	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:113422800-113428000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:113422800-113431400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:113422800-113437000	Weak transcription	HMEC	breast
30	chr2:113422800-113438200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:113423000-113424800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:113423000-113425400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:113423000-113428000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:113423000-113429200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:113423000-113429800	Weak transcription	NHEK	skin
36	chr2:113423000-113430000	Weak transcription	NHDF-Ad	bronchial
37	chr2:113423000-113430800	Weak transcription	Fetal Brain Female	brain
38	chr2:113423200-113424800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:113423200-113425000	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:113423200-113425600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:113423200-113426000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr2:113423200-113426400	Weak transcription	Fetal Thymus	thymus
43	chr2:113423200-113426400	Weak transcription	Osteobl	bone
44	chr2:113423200-113427000	Weak transcription	HUVEC	blood vessel
45	chr2:113423200-113427400	Weak transcription	HSMM	muscle
46	chr2:113423200-113428000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:113423200-113428600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr2:113423200-113428600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:113423200-113429200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:113423200-113429200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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