Variant report

Variant	rs4430003
Chromosome Location	chr7:38866619-38866620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10247503	0.82[JPT][hapmap]
rs12532461	0.91[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12538785	0.84[AMR][1000 genomes]
rs1473137	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1859937	0.89[ASN][1000 genomes]
rs2074656	0.86[CHB][hapmap]
rs2240350	0.81[CHB][hapmap]
rs2240351	0.83[JPT][hapmap]
rs2240355	0.86[CHB][hapmap]
rs2240555	0.86[JPT][hapmap]
rs2286081	0.86[CHB][hapmap]
rs2286086	0.81[JPT][hapmap]
rs2286095	0.84[CHB][hapmap]
rs2286097	0.90[CHB][hapmap]
rs2286099	0.86[CHB][hapmap]
rs2286106	0.81[JPT][hapmap]
rs2392598	0.81[JPT][hapmap]
rs2392609	0.86[JPT][hapmap]
rs2893567	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs3779126	0.86[CHB][hapmap]
rs3801135	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3801143	0.82[JPT][hapmap]
rs3801145	0.82[JPT][hapmap]
rs4723793	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6462862	0.86[CHB][hapmap]
rs6961672	0.86[CHB][hapmap]
rs733150	0.83[JPT][hapmap]
rs7785161	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7785911	0.82[JPT][hapmap]
rs7788664	0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7795874	0.82[JPT][hapmap]
rs7803397	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs886646	0.81[CHB][hapmap]
rs9638944	0.82[CHB][hapmap];0.91[JPT][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	nsv1032637	chr7:38832627-38902723	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv887966	chr7:38835035-38933942	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38831000-38871200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:38831800-38867800	Weak transcription	Fetal Thymus	thymus
3	chr7:38835600-38900800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:38839800-38871000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:38847400-38869800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:38847800-38866800	Weak transcription	Brain Substantia Nigra	brain
7	chr7:38850600-38869600	Weak transcription	Stomach Mucosa	stomach
8	chr7:38851600-38867000	Weak transcription	Gastric	stomach
9	chr7:38854000-38870400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:38855600-38871000	Weak transcription	HepG2	liver
11	chr7:38856000-38871000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:38856200-38871200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:38857200-38867200	Weak transcription	Esophagus	oesophagus
14	chr7:38857600-38871800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:38858000-38870600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:38858200-38867000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:38858200-38868600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr7:38858400-38871800	Weak transcription	Lung	lung
19	chr7:38858600-38901600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr7:38858800-38907600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:38859000-38872800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr7:38859000-38895200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr7:38859400-38868000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:38859400-38869400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:38859800-38900800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr7:38860000-38870800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:38860600-38900200	Weak transcription	Fetal Intestine Large	intestine
28	chr7:38863000-38870800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:38863000-38876800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:38863000-38888200	Weak transcription	Fetal Intestine Small	intestine
31	chr7:38863800-38869400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:38863800-38879600	Weak transcription	Fetal Lung	lung
33	chr7:38864000-38870400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:38864000-38874000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:38864200-38868600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr7:38864200-38871200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr7:38865200-38867400	Enhancers	Adipose Nuclei	Adipose
38	chr7:38865600-38870400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:38865600-38873000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:38865800-38867000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:38865800-38867000	Weak transcription	Pancreas	Pancrea
42	chr7:38865800-38870000	Weak transcription	Placenta	Placenta
43	chr7:38865800-38870800	Weak transcription	Brain Anterior Caudate	brain
44	chr7:38865800-38870800	Weak transcription	Fetal Heart	heart
45	chr7:38865800-38870800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:38865800-38870800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr7:38865800-38871000	Weak transcription	Brain Angular Gyrus	brain
48	chr7:38865800-38871200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:38865800-38872800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:38865800-38879600	Weak transcription	Right Atrium	heart

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