Variant report

Variant	rs6739018
Chromosome Location	chr2:99129354-99129355
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	chr2:99124187..99127172-chr2:99129019..99132025,3	K562	blood:

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

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

rs_ID	r²[population]
rs10183473	1.00[AMR][1000 genomes]
rs11885661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11890366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11891148	1.00[EUR][1000 genomes]
rs11901761	1.00[EUR][1000 genomes]
rs13395005	1.00[EUR][1000 genomes]
rs17020532	1.00[EUR][1000 genomes]
rs17030716	1.00[EUR][1000 genomes]
rs17033137	1.00[EUR][1000 genomes]
rs17034163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1847551	1.00[EUR][1000 genomes]
rs2271041	1.00[EUR][1000 genomes]
rs2871214	1.00[EUR][1000 genomes]
rs35028575	1.00[EUR][1000 genomes]
rs6710669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6716095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6727604	1.00[EUR][1000 genomes]
rs6730113	1.00[EUR][1000 genomes]
rs6730953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6749575	1.00[EUR][1000 genomes]
rs6749743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6754711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6756034	1.00[EUR][1000 genomes]
rs6756693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7561785	1.00[EUR][1000 genomes]
rs7570509	1.00[EUR][1000 genomes]
rs7585045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7605114	1.00[AMR][1000 genomes];1.00[EUR][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	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1006328	chr2:98977192-99210376	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007244	chr2:99063753-99136472	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS 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	18 gene(s)	inside rSNPs	diseases
6	nsv2840	chr2:99116934-99162190	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99101600-99131400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:99112200-99130600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:99114000-99137600	Weak transcription	Fetal Intestine Large	intestine
4	chr2:99114400-99131200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:99114400-99154000	Weak transcription	HepG2	liver
6	chr2:99115000-99135000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:99116600-99137800	Weak transcription	Fetal Brain Female	brain
8	chr2:99116800-99135600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr2:99117200-99131200	Weak transcription	Fetal Kidney	kidney
10	chr2:99118000-99129400	Genic enhancers	Primary T cells from cord blood	blood
11	chr2:99119200-99137400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:99119400-99130600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:99119400-99131400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:99119600-99131400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:99120600-99131200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:99120600-99131400	Weak transcription	Dnd41	blood
17	chr2:99121400-99131200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:99121400-99135800	Weak transcription	Aorta	Aorta
19	chr2:99121600-99155400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:99121800-99136400	Weak transcription	Gastric	stomach
21	chr2:99122000-99130800	Weak transcription	Ovary	ovary
22	chr2:99122000-99131400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:99122200-99135800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:99123200-99154400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:99123600-99134800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr2:99123800-99136200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:99124200-99134800	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr2:99124600-99130400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:99124600-99137400	Weak transcription	Liver	Liver
30	chr2:99124600-99137600	Weak transcription	Pancreas	Pancrea
31	chr2:99124800-99131000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:99124800-99131400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:99124800-99132200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:99124800-99135600	Weak transcription	Fetal Intestine Small	intestine
35	chr2:99125000-99130800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:99125000-99131400	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:99125000-99131400	Weak transcription	HSMMtube	muscle
38	chr2:99125000-99134600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:99125200-99130400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:99125200-99144000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr2:99125400-99130200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:99125400-99131000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:99125400-99131400	Weak transcription	Esophagus	oesophagus
44	chr2:99125400-99137600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:99125400-99143600	Weak transcription	Brain Germinal Matrix	brain
46	chr2:99125600-99129800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:99125600-99130000	Weak transcription	Left Ventricle	heart
48	chr2:99125600-99130200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:99125600-99130800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr2:99125600-99131200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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