Variant report

Variant	rs2285438
Chromosome Location	chr7:18691879-18691880
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	chr7:18690936..18692925-chr7:18694427..18697418,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17139546	0.82[YRI][hapmap];0.82[AFR][1000 genomes]
rs17139610	0.86[AFR][1000 genomes]
rs17150251	0.82[YRI][hapmap];0.86[AFR][1000 genomes]
rs3807918	0.82[YRI][hapmap]
rs739457	0.83[YRI][hapmap];0.82[AFR][1000 genomes]
rs972400	0.82[CHB][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	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:63 , 50 per page) page: 1 2

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	chr7:18646000-18692400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr7:18656000-18706000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:18661800-18699800	Weak transcription	Right Ventricle	heart
7	chr7:18671400-18692600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:18671400-18705600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:18671600-18694400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:18673200-18707000	Weak transcription	Fetal Kidney	kidney
11	chr7:18678400-18702000	Weak transcription	Spleen	Spleen
12	chr7:18678400-18721200	Weak transcription	Brain Substantia Nigra	brain
13	chr7:18678600-18695400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:18678600-18695800	Weak transcription	Brain Anterior Caudate	brain
15	chr7:18679600-18692000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:18679600-18698000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:18682200-18695400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:18682400-18706000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr7:18683800-18696600	Weak transcription	Fetal Brain Male	brain
20	chr7:18686800-18699400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:18687600-18692000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr7:18687600-18694400	Weak transcription	Esophagus	oesophagus
23	chr7:18687800-18697400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:18688200-18695800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr7:18688400-18699200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:18688400-18699200	Weak transcription	Fetal Stomach	stomach
27	chr7:18688400-18699200	Weak transcription	NHDF-Ad	bronchial
28	chr7:18688400-18706000	Weak transcription	NHEK	skin
29	chr7:18688400-18715200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:18688600-18706000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:18688800-18695200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:18688800-18697400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:18688800-18702400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:18688800-18703400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:18688800-18705800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:18688800-18706600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:18688800-18746400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr7:18689000-18692400	Weak transcription	Brain Germinal Matrix	brain
39	chr7:18689000-18694400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:18689000-18697600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:18689000-18707400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr7:18689200-18695800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:18689200-18704800	Weak transcription	Fetal Brain Female	brain
44	chr7:18689400-18695200	Weak transcription	Adipose Nuclei	Adipose
45	chr7:18689400-18695600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr7:18689400-18701200	Weak transcription	Fetal Muscle Leg	muscle
47	chr7:18689400-18705800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:18689400-18708200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr7:18689400-18713200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:18689600-18697400	Weak transcription	Aorta	Aorta

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