Variant report

Variant	rs61246630
Chromosome Location	chr2:182675347-182675348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182673076..182675732-chr2:182690714..182692321,2	MCF-7	breast:
2	chr2:182673309..182675610-chr2:182753530..182756774,3	MCF-7	breast:
3	chr2:182653727..182657745-chr2:182674412..182677081,4	MCF-7	breast:
4	chr2:182674283..182676270-chr2:182679368..182682318,3	MCF-7	breast:
5	chr2:182674401..182676353-chr2:182754991..182757437,2	MCF-7	breast:
6	chr2:182674418..182676903-chr2:182677977..182680829,2	K562	blood:

Variant related genes	Relation type
ENSG00000138434	Chromatin interaction
ENSG00000260742	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10497586	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11891680	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11898530	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902326	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12612058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12618902	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12620901	0.99[ASN][1000 genomes]
rs12622894	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13387144	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1427333	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1528028	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16867496	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs16867503	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16867506	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1991374	0.88[ASN][1000 genomes]
rs57000426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57281910	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs57971040	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59159077	0.83[ASN][1000 genomes]
rs59956987	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60200067	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6720578	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7567399	0.98[ASN][1000 genomes]
rs7567560	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7581484	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7584725	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182669200-182675600	Weak transcription	Thymus	Thymus
2	chr2:182669200-182676000	Weak transcription	Lung	lung
3	chr2:182669400-182675600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:182669400-182675600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:182669400-182675800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:182669600-182675400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:182669800-182675600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:182670000-182675600	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:182670200-182675800	Weak transcription	Primary T cells from cord blood	blood
10	chr2:182670600-182675400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:182670800-182675600	Weak transcription	Brain Substantia Nigra	brain
12	chr2:182671000-182675400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:182671000-182675400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:182671000-182675400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:182671000-182675400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:182671000-182675400	Weak transcription	HMEC	breast
17	chr2:182671000-182675400	Weak transcription	HSMM	muscle
18	chr2:182671000-182675400	Weak transcription	HSMMtube	muscle
19	chr2:182671000-182675400	Weak transcription	K562	blood
20	chr2:182671000-182675400	Weak transcription	NHDF-Ad	bronchial
21	chr2:182671000-182675600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:182671000-182675600	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:182671000-182675600	Weak transcription	Fetal Kidney	kidney
24	chr2:182671000-182675600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:182671000-182675800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:182671000-182675800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:182671000-182675800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:182671000-182675800	Weak transcription	Adipose Nuclei	Adipose
29	chr2:182671000-182675800	Weak transcription	Pancreas	Pancrea
30	chr2:182671000-182676000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:182671000-182676000	Weak transcription	Left Ventricle	heart
32	chr2:182671000-182676000	Weak transcription	Right Atrium	heart
33	chr2:182671000-182678400	Weak transcription	Aorta	Aorta
34	chr2:182671200-182675400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:182671200-182675400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:182671200-182675400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:182671200-182675400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:182671200-182675400	Weak transcription	Osteobl	bone
39	chr2:182671200-182675600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr2:182671200-182675600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:182671200-182675600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:182671200-182675600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:182671200-182678800	Weak transcription	NHLF	lung
44	chr2:182671200-182682600	Weak transcription	Fetal Stomach	stomach
45	chr2:182673600-182675800	Enhancers	HUVEC	blood vessel
46	chr2:182673800-182675400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:182673800-182675600	Enhancers	Fetal Thymus	thymus
48	chr2:182674000-182675400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:182674000-182675400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:182674000-182675600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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