Variant report

Variant	rs61740192
Chromosome Location	chr5:179922565-179922566
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179920260..179922999-chr5:180038598..180040134,2	MCF-7	breast:
2	chr5:179920138..179923580-chr5:179954774..179958751,3	MCF-7	breast:
3	chr5:179778332..179781251-chr5:179920436..179923318,3	MCF-7	breast:
4	chr5:179718755..179721306-chr5:179919977..179922949,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248367	Chromatin interaction
ENSG00000037280	Chromatin interaction
ENSG00000131459	Chromatin interaction
ENSG00000113300	Chromatin interaction
ENSG00000050748	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1043287	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55673143	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55688275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55999117	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56231520	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56318449	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56357267	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62405546	1.00[ASN][1000 genomes]
rs72811134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811158	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811160	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811161	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811164	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811166	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811168	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812928	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812934	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812935	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812937	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812939	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812941	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812944	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812945	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812946	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812949	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812951	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812957	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812960	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812965	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812966	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812969	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812971	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812973	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812978	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812979	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812980	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812981	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812983	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812984	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814954	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814958	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814971	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814974	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814977	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814986	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814988	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814991	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72815000	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816959	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816960	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816961	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816964	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816965	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816968	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816970	0.82[EUR][1000 genomes]
rs72816972	0.82[EUR][1000 genomes]
rs7728141	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
4	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
6	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
8	nsv1023537	chr5:179791679-179982822	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv537985	chr5:179791679-179982822	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1019519	chr5:179866730-179959408	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv830564	chr5:179867394-180010096	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	esv3356496	chr5:179920371-179922919	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179920400-179922800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr5:179920400-179923000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr5:179920400-179923200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:179920400-179923400	Active TSS	GM12878-XiMat	blood
5	chr5:179920600-179922600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:179920600-179922800	Active TSS	Right Atrium	heart
7	chr5:179920600-179923000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr5:179920600-179923200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr5:179920800-179922600	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr5:179920800-179922800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:179920800-179923000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:179920800-179923000	Active TSS	A549	lung
13	chr5:179920800-179923200	Active TSS	NHDF-Ad	bronchial
14	chr5:179921000-179922600	Active TSS	H1 Cell Line	embryonic stem cell
15	chr5:179921000-179922600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:179921000-179922600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:179921000-179922600	Active TSS	Gastric	stomach
18	chr5:179921000-179922600	Active TSS	Lung	lung
19	chr5:179921000-179922800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:179921000-179922800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:179921000-179922800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:179921000-179922800	Active TSS	Aorta	Aorta
23	chr5:179921000-179922800	Active TSS	Ovary	ovary
24	chr5:179921000-179922800	Active TSS	NHLF	lung
25	chr5:179921000-179923000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:179921000-179923000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:179921000-179923200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:179921200-179922800	Active TSS	HMEC	breast
29	chr5:179921400-179923000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:179921400-179923000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr5:179921600-179922600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr5:179922000-179922600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr5:179922000-179922600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:179922000-179922600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:179922000-179922600	Flanking Active TSS	Colonic Mucosa	Colon
36	chr5:179922000-179922600	Bivalent/Poised TSS	HepG2	liver
37	chr5:179922000-179922800	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr5:179922000-179922800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:179922200-179922600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:179922200-179922600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr5:179922200-179922600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr5:179922200-179922600	Flanking Active TSS	Primary B cells from peripheral blood	blood
43	chr5:179922200-179922600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:179922200-179922600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:179922200-179922600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr5:179922200-179922600	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr5:179922200-179922600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
48	chr5:179922200-179922600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr5:179922200-179922600	Flanking Active TSS	Stomach Mucosa	stomach
50	chr5:179922200-179922800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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