Variant report

Variant	rs73978626
Chromosome Location	chr2:190310485-190310486
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190308951..190311414-chr2:190525622..190528539,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138381	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10164448	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10198505	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10755003	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10931409	0.80[EUR][1000 genomes]
rs1464262	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1473999	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1515867	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1606931	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16831356	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2030293	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2102874	0.91[EUR][1000 genomes]
rs2176649	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2351634	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2683011	0.91[AMR][1000 genomes]
rs4031918	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4494782	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4666773	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56920210	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58288282	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58796942	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6434335	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73978612	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73978617	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73978620	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73978632	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73978633	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73982009	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73982031	0.80[AMR][1000 genomes]
rs7591652	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7596033	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs870921	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs870922	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs939157	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs939159	1.00[AMR][1000 genomes];0.91[EUR][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv584062	chr2:190272195-190376493	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190306800-190323000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:190306800-190323800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:190306800-190344200	Weak transcription	Esophagus	oesophagus
4	chr2:190307000-190317600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:190307000-190334200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:190307200-190312800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:190307200-190313200	Weak transcription	Fetal Kidney	kidney
8	chr2:190307200-190313400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:190307400-190311800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:190307400-190312200	Weak transcription	Placenta	Placenta
11	chr2:190307400-190312400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:190307400-190312800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr2:190307400-190312800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:190307400-190313000	Weak transcription	HSMMtube	muscle
15	chr2:190307600-190311000	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:190307600-190311400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr2:190307600-190312200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:190307600-190312200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:190307600-190312600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:190307600-190312600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:190307600-190312800	Weak transcription	Brain Anterior Caudate	brain
22	chr2:190307600-190313000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:190307600-190313200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:190307600-190314200	Weak transcription	Brain Germinal Matrix	brain
25	chr2:190307600-190314800	Weak transcription	Left Ventricle	heart
26	chr2:190307600-190314800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:190307600-190315000	Weak transcription	Gastric	stomach
28	chr2:190307600-190316200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:190307600-190316200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:190307600-190316400	Weak transcription	Colonic Mucosa	Colon
31	chr2:190307600-190317000	Weak transcription	Fetal Stomach	stomach
32	chr2:190307600-190317200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:190307600-190317400	Weak transcription	Lung	lung
34	chr2:190307600-190322600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:190307600-190323400	Weak transcription	Ovary	ovary
36	chr2:190307600-190330000	Weak transcription	Fetal Heart	heart
37	chr2:190307600-190334200	Weak transcription	Pancreas	Pancrea
38	chr2:190307600-190338200	Weak transcription	Spleen	Spleen
39	chr2:190307600-190342000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:190307600-190342600	Weak transcription	Aorta	Aorta
41	chr2:190307800-190310600	Weak transcription	NHLF	lung
42	chr2:190307800-190311000	Weak transcription	NH-A	brain
43	chr2:190307800-190311200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:190307800-190312000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:190307800-190313000	Weak transcription	Brain Substantia Nigra	brain
46	chr2:190307800-190314000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:190307800-190332400	Weak transcription	Stomach Mucosa	stomach
48	chr2:190308000-190311800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:190308000-190312800	Weak transcription	Fetal Thymus	thymus
50	chr2:190308000-190313000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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