Variant report

Variant	rs7556971
Chromosome Location	chr2:187543302-187543303
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187543296..187546099-chr2:187546691..187548882,2	K562	blood:
2	chr2:187516224..187518137-chr2:187542531..187545442,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1375447	1.00[CHB][hapmap]
rs1449088	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs1449090	1.00[CHB][hapmap]
rs1449091	1.00[CHB][hapmap]
rs1470602	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16828026	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16828108	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs16828136	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1839122	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2167013	1.00[CHB][hapmap]
rs2247924	1.00[CHB][hapmap]
rs2594698	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2594702	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2594703	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2594704	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2595377	1.00[CHB][hapmap]
rs2595379	1.00[CHB][hapmap]
rs2682852	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2682853	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682854	0.85[ASN][1000 genomes]
rs2682858	1.00[CHB][hapmap]
rs2682861	1.00[CHB][hapmap]
rs2682866	0.85[ASN][1000 genomes]
rs2682869	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682870	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682872	0.85[ASN][1000 genomes]
rs2682874	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs3738918	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3754584	1.00[CHB][hapmap]
rs6761687	1.00[CHB][hapmap];0.81[AMR][1000 genomes]
rs976693	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187501000-187548400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:187503400-187545000	Weak transcription	Hela-S3	cervix
3	chr2:187507800-187546600	Weak transcription	Small Intestine	intestine
4	chr2:187511400-187546600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:187511600-187545000	Strong transcription	Osteobl	bone
6	chr2:187513800-187546800	Strong transcription	NH-A	brain
7	chr2:187514600-187546200	Strong transcription	Placenta	Placenta
8	chr2:187516400-187543600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:187516600-187545400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:187518800-187547200	Strong transcription	HUVEC	blood vessel
11	chr2:187520000-187545000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:187523000-187546800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:187527600-187543600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:187527600-187546400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:187527800-187544200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:187528000-187544000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr2:187528000-187544600	Strong transcription	HSMM	muscle
18	chr2:187528000-187548000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:187528200-187543600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:187528600-187543600	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr2:187529000-187548200	Weak transcription	Stomach Mucosa	stomach
22	chr2:187531800-187543600	Strong transcription	Fetal Lung	lung
23	chr2:187533200-187543600	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:187536200-187543800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:187536200-187546800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:187536200-187548200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:187536400-187543400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:187536400-187550000	Weak transcription	Gastric	stomach
29	chr2:187537000-187543600	Weak transcription	Pancreas	Pancrea
30	chr2:187537400-187543400	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr2:187537400-187545000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:187537600-187544200	Weak transcription	Fetal Brain Male	brain
33	chr2:187537600-187547400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:187537800-187543400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:187538000-187547200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:187538000-187548400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:187538200-187543400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:187538200-187543600	Strong transcription	Adipose Nuclei	Adipose
39	chr2:187538200-187543600	Strong transcription	Liver	Liver
40	chr2:187538200-187543800	Weak transcription	Brain Angular Gyrus	brain
41	chr2:187538200-187544200	Weak transcription	Brain Germinal Matrix	brain
42	chr2:187538200-187545400	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:187538200-187546000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:187538200-187546200	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:187538200-187547800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:187538200-187552800	Weak transcription	Brain Substantia Nigra	brain
47	chr2:187538400-187544000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:187538600-187547000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:187539000-187543800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:187539000-187545600	Weak transcription	Fetal Muscle Trunk	muscle

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