Variant report

Variant	rs758680
Chromosome Location	chr7:69111844-69111845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1014382	0.84[AMR][1000 genomes]
rs10237145	0.80[AMR][1000 genomes]
rs12333508	0.84[AMR][1000 genomes]
rs1468588	0.81[AMR][1000 genomes]
rs210603	0.82[AMR][1000 genomes]
rs2533432	0.84[AMR][1000 genomes]
rs2533434	0.84[AMR][1000 genomes]
rs2533440	0.80[AMR][1000 genomes]
rs2533446	0.84[AMR][1000 genomes]
rs2851488	0.84[AMR][1000 genomes]
rs2851500	0.84[AMR][1000 genomes]
rs2851504	0.84[AMR][1000 genomes]
rs2851512	0.84[AMR][1000 genomes]
rs2851517	0.84[AMR][1000 genomes]
rs588004	0.82[AMR][1000 genomes]
rs611052	0.84[AMR][1000 genomes]
rs624626	0.84[AMR][1000 genomes]
rs674865	0.82[AMR][1000 genomes]
rs720056	0.84[AMR][1000 genomes]
rs917616	0.84[AMR][1000 genomes]
rs981291	0.84[AMR][1000 genomes]
rs988282	0.84[AMR][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	nsv1023885	chr7:68894896-69158290	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538915	chr7:68894896-69158290	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv428169	chr7:69021482-69196743	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69104600-69114200	Weak transcription	Brain Angular Gyrus	brain
2	chr7:69106200-69115600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:69106200-69119000	Weak transcription	Brain Substantia Nigra	brain
4	chr7:69106200-69121600	Weak transcription	Fetal Kidney	kidney
5	chr7:69106400-69114000	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:69106400-69114200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:69107600-69113200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:69108200-69115600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:69108200-69118000	Weak transcription	Lung	lung
10	chr7:69109000-69115800	Weak transcription	Left Ventricle	heart
11	chr7:69109200-69112400	Weak transcription	Psoas Muscle	Psoas
12	chr7:69109200-69112600	Weak transcription	Brain Anterior Caudate	brain
13	chr7:69109200-69115600	Weak transcription	Right Atrium	heart
14	chr7:69109200-69119000	Weak transcription	Fetal Stomach	stomach
15	chr7:69109400-69112600	Weak transcription	Brain Germinal Matrix	brain
16	chr7:69109400-69112600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:69109400-69112800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:69109400-69113800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:69109400-69118000	Weak transcription	Fetal Lung	lung
20	chr7:69109400-69119400	Weak transcription	Fetal Brain Female	brain
21	chr7:69109400-69121800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:69109800-69112600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr7:69109800-69119200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:69110000-69113000	Enhancers	Ovary	ovary
25	chr7:69110000-69119400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:69110200-69112000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:69110400-69112600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:69110600-69112000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:69110600-69117600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:69110800-69112400	Weak transcription	Fetal Intestine Small	intestine
31	chr7:69111000-69112000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:69111000-69114000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr7:69111000-69115200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:69111000-69121800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:69111200-69118000	Weak transcription	Adipose Nuclei	Adipose
36	chr7:69111400-69112400	Active TSS	Monocytes-CD14+_RO01746	blood
37	chr7:69111400-69112600	Weak transcription	Brain Hippocampus Middle	brain
38	chr7:69111400-69113800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr7:69111600-69112200	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr7:69111600-69112200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr7:69111600-69112200	Active TSS	Primary B cells from cord blood	blood
42	chr7:69111600-69112200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:69111600-69112200	Active TSS	Thymus	Thymus
44	chr7:69111600-69112400	Active TSS	K562	blood
45	chr7:69111600-69112600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:69111800-69112000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr7:69111800-69112400	Active TSS	Primary hematopoietic stem cells	blood
48	chr7:69111800-69112400	Active TSS	Placenta	Placenta
49	chr7:69111800-69113000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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