Variant report

Variant	rs17150249
Chromosome Location	chr7:18702149-18702150
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:18700553..18702239-chr7:18705669..18708088,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10240305	1.00[JPT][hapmap]
rs11505303	1.00[JPT][hapmap]
rs11977498	0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs11982882	1.00[JPT][hapmap]
rs17139344	1.00[YRI][hapmap]
rs17139554	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17139557	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs17139619	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs212667	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4605958	1.00[JPT][hapmap]
rs751185	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7777856	1.00[JPT][hapmap]
rs7812153	1.00[JPT][hapmap]
rs812395	1.00[CHB][hapmap];1.00[JPT][hapmap];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	esv2755157	chr7:18337660-18805860	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830917	chr7:18612436-18817712	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv531368	chr7:18677922-18836920	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18645200-18708000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr7:18645400-18721000	Weak transcription	Psoas Muscle	Psoas
3	chr7:18645800-18706000	Weak transcription	HMEC	breast
4	chr7:18656000-18706000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:18671400-18705600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:18673200-18707000	Weak transcription	Fetal Kidney	kidney
7	chr7:18678400-18721200	Weak transcription	Brain Substantia Nigra	brain
8	chr7:18682400-18706000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:18688400-18706000	Weak transcription	NHEK	skin
10	chr7:18688400-18715200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:18688600-18706000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:18688800-18702400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:18688800-18703400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:18688800-18705800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:18688800-18706600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:18688800-18746400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:18689000-18707400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:18689200-18704800	Weak transcription	Fetal Brain Female	brain
19	chr7:18689400-18705800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:18689400-18708200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:18689400-18713200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:18689600-18705800	Weak transcription	Left Ventricle	heart
23	chr7:18689600-18706800	Weak transcription	NH-A	brain
24	chr7:18690000-18708200	Weak transcription	Fetal Heart	heart
25	chr7:18693200-18704200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr7:18694600-18705800	Weak transcription	Esophagus	oesophagus
27	chr7:18695400-18703000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:18695800-18706400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:18696200-18715000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:18696600-18702400	Weak transcription	Adipose Nuclei	Adipose
31	chr7:18696800-18710800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:18698000-18743400	Weak transcription	HSMMtube	muscle
33	chr7:18699400-18702400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:18699400-18707600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:18699600-18706200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr7:18699600-18706800	Weak transcription	NHDF-Ad	bronchial
37	chr7:18699600-18708400	Weak transcription	Brain Hippocampus Middle	brain
38	chr7:18699600-18776000	Weak transcription	Aorta	Aorta
39	chr7:18700000-18702400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr7:18700400-18702400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr7:18701800-18703200	Strong transcription	Primary B cells from cord blood	blood
42	chr7:18702000-18702200	Enhancers	Spleen	Spleen
43	chr7:18702000-18702800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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