Variant report

Variant	rs12616005
Chromosome Location	chr2:101193457-101193458
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	chr2:101177993..101180966-chr2:101192692..101194735,2	K562	blood:

Variant related genes	Relation type
ENSG00000115539	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1052117	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1114285	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11678350	0.82[ASN][1000 genomes]
rs13005184	0.88[AMR][1000 genomes]
rs1401753	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1533655	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1589246	1.00[JPT][hapmap]
rs17024338	1.00[JPT][hapmap]
rs2139402	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2309846	1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2946584	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2946586	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2946587	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2946588	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2970994	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2970997	1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2971007	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4851332	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4851333	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4851340	0.82[ASN][1000 genomes]
rs6542968	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6542969	1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6747613	1.00[JPT][hapmap]
rs6753993	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs72827222	0.91[ASN][1000 genomes]
rs7575538	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7578708	1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7594904	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7595492	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9646943	0.84[AMR][1000 genomes];0.91[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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv834312	chr2:101044438-101238166	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101180200-101194400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:101180600-101194400	Weak transcription	NHDF-Ad	bronchial
3	chr2:101180600-101197800	Weak transcription	Stomach Mucosa	stomach
4	chr2:101180800-101195600	Weak transcription	Fetal Heart	heart
5	chr2:101180800-101195800	Strong transcription	Fetal Stomach	stomach
6	chr2:101180800-101196800	Weak transcription	NHLF	lung
7	chr2:101180800-101197000	Weak transcription	Colonic Mucosa	Colon
8	chr2:101180800-101197200	Weak transcription	Small Intestine	intestine
9	chr2:101181000-101195800	Strong transcription	Fetal Muscle Trunk	muscle
10	chr2:101181400-101195800	Strong transcription	Fetal Muscle Leg	muscle
11	chr2:101181400-101196200	Weak transcription	Gastric	stomach
12	chr2:101181400-101196800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:101181600-101196600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:101181600-101197200	Weak transcription	Brain Angular Gyrus	brain
15	chr2:101182000-101194600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:101182600-101193600	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:101182600-101194200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:101182600-101195800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:101182600-101195800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:101182800-101194600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:101182800-101194600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:101182800-101194600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:101182800-101194600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:101182800-101194600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:101182800-101194600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:101182800-101194800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:101182800-101195000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:101182800-101195000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr2:101182800-101195200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:101182800-101195200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:101182800-101195600	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:101183000-101194000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:101183000-101194200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:101183000-101194200	Strong transcription	Liver	Liver
35	chr2:101183000-101194400	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:101183000-101194600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:101183000-101194800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:101183200-101194400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:101183200-101194600	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr2:101183800-101194200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:101183800-101204200	Weak transcription	Hela-S3	cervix
42	chr2:101184000-101194600	Weak transcription	HMEC	breast
43	chr2:101184000-101197600	Weak transcription	NHEK	skin
44	chr2:101184200-101194200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:101184200-101195400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:101184200-101196400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:101184200-101197600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:101185200-101194800	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:101186200-101193800	Weak transcription	GM12878-XiMat	blood
50	chr2:101186400-101197000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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