Variant report

Variant	rs751204
Chromosome Location	chr2:47108976-47108977
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47104590..47107409-chr2:47107469..47109857,2	K562	blood:
2	chr2:47108239..47110514-chr2:47142135..47144424,2	MCF-7	breast:
3	chr2:47102971..47104916-chr2:47106990..47109724,2	K562	blood:
4	chr2:47107200..47110279-chr2:47111432..47113663,3	K562	blood:
5	chr2:46917588..46920626-chr2:47107576..47110678,3	K562	blood:

Variant related genes	Relation type
ENSG00000180398	Chromatin interaction
ENSG00000068724	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10206803	0.87[EUR][1000 genomes]
rs13407114	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1992759	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28534810	0.98[ASN][1000 genomes]
rs4334538	0.85[CEU][hapmap]
rs55759365	0.91[EUR][1000 genomes]
rs62136785	0.92[EUR][1000 genomes]
rs6544934	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs753487	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs753897	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs935378	0.85[JPT][hapmap]

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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47097400-47116200	Enhancers	NHDF-Ad	bronchial
2	chr2:47104400-47109000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:47105000-47110000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:47105800-47115800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:47106000-47110600	Weak transcription	Gastric	stomach
6	chr2:47106400-47109600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:47106400-47109600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:47106400-47131000	Weak transcription	Esophagus	oesophagus
9	chr2:47106600-47110000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:47106600-47116000	Weak transcription	Brain Angular Gyrus	brain
11	chr2:47107000-47115800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:47107200-47109000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:47107200-47109400	Weak transcription	Brain Anterior Caudate	brain
14	chr2:47107200-47110800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:47107200-47110800	Enhancers	NHLF	lung
16	chr2:47107400-47109600	Enhancers	Fetal Kidney	kidney
17	chr2:47107400-47117000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:47107800-47109000	Enhancers	Lung	lung
19	chr2:47107800-47109600	Enhancers	Hela-S3	cervix
20	chr2:47107800-47110200	Enhancers	Fetal Muscle Trunk	muscle
21	chr2:47107800-47110200	Enhancers	Right Ventricle	heart
22	chr2:47107800-47110200	Enhancers	HUVEC	blood vessel
23	chr2:47107800-47110400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:47107800-47110600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:47107800-47110600	Enhancers	Placenta	Placenta
26	chr2:47107800-47110800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:47107800-47110800	Enhancers	Left Ventricle	heart
28	chr2:47108000-47110000	Enhancers	Colon Smooth Muscle	Colon
29	chr2:47108200-47109000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:47108200-47110200	Enhancers	Fetal Stomach	stomach
31	chr2:47108200-47110200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:47108200-47110200	Flanking Active TSS	A549	lung
33	chr2:47108200-47110400	Enhancers	Fetal Muscle Leg	muscle
34	chr2:47108200-47110400	Enhancers	Ovary	ovary
35	chr2:47108200-47110400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr2:47108200-47110400	Enhancers	HSMM	muscle
37	chr2:47108200-47110800	Enhancers	Colonic Mucosa	Colon
38	chr2:47108400-47109000	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:47108400-47109000	Weak transcription	Pancreas	Pancrea
40	chr2:47108400-47109200	Flanking Active TSS	Osteobl	bone
41	chr2:47108400-47109400	Enhancers	Spleen	Spleen
42	chr2:47108400-47109600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:47108400-47109600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr2:47108400-47109600	Enhancers	Fetal Lung	lung
45	chr2:47108400-47110000	Enhancers	Adipose Nuclei	Adipose
46	chr2:47108400-47110000	Bivalent Enhancer	HepG2	liver
47	chr2:47108400-47110200	Enhancers	Right Atrium	heart
48	chr2:47108400-47110200	Enhancers	Stomach Smooth Muscle	stomach
49	chr2:47108400-47110600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:47108400-47110600	Enhancers	Fetal Intestine Large	intestine

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