Variant report

Variant	rs10173722
Chromosome Location	chr2:39611581-39611582
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	chr2:39609687..39611705-chr2:39616277..39618886,3	K562	blood:
2	chr2:39609764..39613069-chr2:39616003..39618259,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10170604	0.80[AFR][1000 genomes]
rs12712641	0.80[AFR][1000 genomes]
rs2056653	0.80[ASN][1000 genomes]
rs2056655	0.84[ASN][1000 genomes]
rs2160661	0.91[AFR][1000 genomes]
rs2373532	0.84[ASN][1000 genomes]
rs2373534	0.88[AFR][1000 genomes]
rs4670273	0.80[ASN][1000 genomes]
rs4670938	0.80[ASN][1000 genomes]
rs6544224	0.84[AFR][1000 genomes]
rs6544229	0.80[ASN][1000 genomes]
rs6712274	0.83[AFR][1000 genomes]
rs6720537	0.84[ASN][1000 genomes]
rs6720951	0.84[ASN][1000 genomes]
rs6721049	0.87[ASN][1000 genomes]
rs6758596	0.84[ASN][1000 genomes]
rs7605939	0.82[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	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39588000-39630400	Weak transcription	Placenta	Placenta
2	chr2:39591800-39621400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:39592800-39617600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:39600600-39614600	Weak transcription	Aorta	Aorta
5	chr2:39603200-39638400	Weak transcription	Hela-S3	cervix
6	chr2:39603400-39612000	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:39603400-39613200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:39603400-39625000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:39603400-39626800	Weak transcription	Primary T cells from cord blood	blood
10	chr2:39605600-39612400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:39605800-39612200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:39606400-39614000	Weak transcription	Right Ventricle	heart
13	chr2:39606600-39611800	Enhancers	HepG2	liver
14	chr2:39607000-39626800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:39607200-39614600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:39607400-39624800	Weak transcription	Stomach Mucosa	stomach
17	chr2:39607600-39619800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:39607600-39643400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:39608000-39612000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:39608000-39612000	Weak transcription	NHEK	skin
21	chr2:39608000-39622800	Weak transcription	Fetal Kidney	kidney
22	chr2:39608200-39613000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:39608400-39612000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:39608400-39612200	Weak transcription	HMEC	breast
25	chr2:39608400-39612200	Weak transcription	HUVEC	blood vessel
26	chr2:39608400-39614600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:39608400-39621000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:39608400-39626200	Weak transcription	Brain Substantia Nigra	brain
29	chr2:39609000-39617400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:39609200-39612000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:39609200-39612400	Weak transcription	HSMMtube	muscle
32	chr2:39609200-39614000	Weak transcription	Pancreas	Pancrea
33	chr2:39609200-39614600	Weak transcription	Liver	Liver
34	chr2:39609200-39615200	Weak transcription	Gastric	stomach
35	chr2:39609200-39617200	Weak transcription	NHDF-Ad	bronchial
36	chr2:39609200-39621600	Weak transcription	Lung	lung
37	chr2:39609400-39613200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:39609400-39615000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:39609400-39621200	Weak transcription	Brain Angular Gyrus	brain
40	chr2:39609400-39621200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:39609400-39621600	Weak transcription	HSMM	muscle
42	chr2:39609600-39612400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:39609600-39614400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:39609600-39614600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:39609600-39617400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr2:39609600-39621200	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:39609600-39621400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:39609600-39621600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr2:39609600-39621600	Weak transcription	NH-A	brain
50	chr2:39609600-39621600	Weak transcription	Osteobl	bone

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