Variant report

Variant	rs17507811
Chromosome Location	chr7:39699999-39700000
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10231409	0.89[JPT][hapmap]
rs10486799	1.00[AFR][1000 genomes]
rs10486802	0.88[JPT][hapmap]
rs17171616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17416875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17508730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17509194	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17714061	1.00[AFR][1000 genomes]
rs3779203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3801265	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56719666	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73377485	0.82[EUR][1000 genomes]
rs73381122	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73381129	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73387354	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7796021	0.89[JPT][hapmap]
rs7799721	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508451	chr7:39660784-39787222	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv887971	chr7:39662268-39745775	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv887972	chr7:39666267-39733688	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39672200-39722800	Weak transcription	Hela-S3	cervix
2	chr7:39675200-39708800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:39675600-39701400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr7:39680000-39700800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:39680000-39701000	Weak transcription	Esophagus	oesophagus
6	chr7:39680000-39721600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:39680800-39704200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:39680800-39716400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr7:39682000-39700600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:39682000-39704000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:39682000-39704000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:39682400-39700600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:39682600-39702600	Weak transcription	Gastric	stomach
14	chr7:39682800-39722000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:39683400-39701200	Weak transcription	Lung	lung
16	chr7:39683400-39716600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr7:39683600-39712600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:39686200-39704400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:39687400-39715000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr7:39688400-39700600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:39688400-39702200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:39689200-39703800	Weak transcription	Psoas Muscle	Psoas
23	chr7:39690200-39706600	Weak transcription	Fetal Heart	heart
24	chr7:39691800-39700400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:39691800-39707000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:39691800-39708800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr7:39692000-39701200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:39692000-39707000	Weak transcription	Stomach Mucosa	stomach
29	chr7:39692000-39707000	Weak transcription	HSMMtube	muscle
30	chr7:39692000-39707200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr7:39692200-39714000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:39694400-39700200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr7:39694600-39700200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:39694800-39700400	Weak transcription	Fetal Intestine Small	intestine
35	chr7:39694800-39701200	Weak transcription	Fetal Stomach	stomach
36	chr7:39695000-39700400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr7:39695000-39700600	Weak transcription	NHEK	skin
38	chr7:39695000-39701400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr7:39695000-39701600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:39695200-39700200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:39695200-39700400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr7:39695200-39700400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:39695200-39702600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:39695400-39700400	Strong transcription	HUVEC	blood vessel
45	chr7:39695600-39701200	Weak transcription	Fetal Intestine Large	intestine
46	chr7:39695800-39701200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:39696200-39700600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:39696400-39700000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:39696400-39700800	Weak transcription	Fetal Muscle Leg	muscle
50	chr7:39696400-39701400	Weak transcription	Thymus	Thymus

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