Variant report

Variant	rs6723908
Chromosome Location	chr2:187613544-187613545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187610996..187613793-chr2:187616587..187618211,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10497678	1.00[EUR][1000 genomes]
rs10931252	0.86[YRI][hapmap]
rs10931254	1.00[YRI][hapmap]
rs1123176	0.93[YRI][hapmap]
rs11678136	0.93[YRI][hapmap]
rs11683459	0.93[YRI][hapmap]
rs11684356	1.00[YRI][hapmap]
rs11885750	1.00[EUR][1000 genomes]
rs11902171	0.93[YRI][hapmap]
rs1451547	1.00[EUR][1000 genomes]
rs1451563	1.00[EUR][1000 genomes]
rs16828163	1.00[YRI][hapmap]
rs16828182	1.00[YRI][hapmap]
rs16828214	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs16828479	1.00[EUR][1000 genomes]
rs16828482	1.00[EUR][1000 genomes]
rs2595389	0.82[YRI][hapmap]
rs2887831	1.00[YRI][hapmap]
rs3886170	1.00[YRI][hapmap]
rs58606847	1.00[EUR][1000 genomes]
rs6744448	1.00[EUR][1000 genomes]
rs7584329	1.00[YRI][hapmap];0.84[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187592200-187618600	Weak transcription	Osteobl	bone
2	chr2:187596600-187626200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:187598600-187621200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:187599600-187631000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:187603200-187626400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:187603200-187626600	Weak transcription	Fetal Stomach	stomach
7	chr2:187603400-187626400	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:187603600-187626600	Weak transcription	Left Ventricle	heart
9	chr2:187603800-187621200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:187604000-187618600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:187605000-187626200	Weak transcription	NHDF-Ad	bronchial
12	chr2:187605000-187626400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:187605600-187619200	Weak transcription	Ovary	ovary
14	chr2:187607000-187619600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:187607400-187626200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:187608600-187614800	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:187608600-187616600	Weak transcription	Fetal Brain Male	brain
18	chr2:187608800-187621200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:187609600-187617400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:187609800-187616400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:187609800-187621400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:187610000-187619600	Weak transcription	NH-A	brain
23	chr2:187610000-187621200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:187610200-187616200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:187610800-187621200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:187611000-187621400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:187611000-187626400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:187611000-187628800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:187611000-187628800	Weak transcription	HSMM	muscle
30	chr2:187611400-187616600	Weak transcription	Brain Angular Gyrus	brain
31	chr2:187611800-187615800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:187611800-187618600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:187611800-187623800	Weak transcription	Psoas Muscle	Psoas
34	chr2:187612000-187636200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:187612400-187614800	Strong transcription	Brain Germinal Matrix	brain
36	chr2:187612400-187628800	Weak transcription	Fetal Kidney	kidney
37	chr2:187612600-187613800	Strong transcription	Brain Substantia Nigra	brain
38	chr2:187612600-187613800	Strong transcription	Fetal Lung	lung
39	chr2:187612600-187614000	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr2:187612800-187613600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:187612800-187613600	Strong transcription	Brain Cingulate Gyrus	brain
42	chr2:187612800-187613800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:187612800-187613800	Strong transcription	Brain Hippocampus Middle	brain
44	chr2:187612800-187613800	Enhancers	HUVEC	blood vessel
45	chr2:187612800-187614200	Strong transcription	Fetal Brain Female	brain
46	chr2:187612800-187614600	Strong transcription	Brain Anterior Caudate	brain
47	chr2:187613000-187613600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:187613000-187621600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr2:187613000-187626200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:187613200-187613600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

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