Variant report

Variant	rs6739992
Chromosome Location	chr2:101187204-101187205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:101178341..101181303-chr2:101186907..101188492,2	MCF-7	breast:
2	chr2:101183072..101185722-chr2:101186907..101190302,3	K562	blood:
3	chr2:101178645..101181337-chr2:101184679..101187696,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115539	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10178491	1.00[ASN][1000 genomes]
rs10190324	1.00[ASN][1000 genomes]
rs10200086	0.82[ASN][1000 genomes]
rs1052117	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1114285	0.82[ASN][1000 genomes]
rs11681805	0.92[ASN][1000 genomes]
rs11691661	1.00[ASN][1000 genomes]
rs12469332	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12618862	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12622226	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13393125	0.82[ASN][1000 genomes]
rs13418741	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1401753	0.82[ASN][1000 genomes]
rs1533655	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2309848	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28560372	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28673254	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28694778	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2971007	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4850940	1.00[ASN][1000 genomes]
rs4851334	1.00[ASN][1000 genomes]
rs4851335	1.00[ASN][1000 genomes]
rs4851337	1.00[ASN][1000 genomes]
rs4851338	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58420974	1.00[ASN][1000 genomes]
rs61370232	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62155213	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66689046	0.82[ASN][1000 genomes]
rs67061569	1.00[ASN][1000 genomes]
rs6746622	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6747613	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748900	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753993	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557603	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560366	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594904	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596475	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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	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:122 , 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	chr2:101180400-101188400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:101180600-101187800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:101180600-101192600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:101180600-101192800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:101180600-101193400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:101180600-101194400	Weak transcription	NHDF-Ad	bronchial
8	chr2:101180600-101197800	Weak transcription	Stomach Mucosa	stomach
9	chr2:101180800-101195600	Weak transcription	Fetal Heart	heart
10	chr2:101180800-101195800	Strong transcription	Fetal Stomach	stomach
11	chr2:101180800-101196800	Weak transcription	NHLF	lung
12	chr2:101180800-101197000	Weak transcription	Colonic Mucosa	Colon
13	chr2:101180800-101197200	Weak transcription	Small Intestine	intestine
14	chr2:101181000-101195800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr2:101181200-101191200	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:101181400-101187400	Weak transcription	Pancreas	Pancrea
17	chr2:101181400-101187800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:101181400-101188200	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:101181400-101195800	Strong transcription	Fetal Muscle Leg	muscle
20	chr2:101181400-101196200	Weak transcription	Gastric	stomach
21	chr2:101181400-101196800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:101181600-101188200	Weak transcription	Esophagus	oesophagus
23	chr2:101181600-101196600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:101181600-101197200	Weak transcription	Brain Angular Gyrus	brain
25	chr2:101182000-101194600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:101182600-101187800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr2:101182600-101189200	Strong transcription	Brain Germinal Matrix	brain
28	chr2:101182600-101191600	Strong transcription	Dnd41	blood
29	chr2:101182600-101192800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:101182600-101193600	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:101182600-101194200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:101182600-101195800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:101182600-101195800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:101182800-101188400	Strong transcription	Left Ventricle	heart
35	chr2:101182800-101188600	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr2:101182800-101189800	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:101182800-101192200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:101182800-101192400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:101182800-101192800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:101182800-101193400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:101182800-101194600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:101182800-101194600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:101182800-101194600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr2:101182800-101194600	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:101182800-101194600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr2:101182800-101194600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:101182800-101194800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:101182800-101195000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:101182800-101195000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr2:101182800-101195200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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