Variant report

Variant	rs2191824
Chromosome Location	chr7:69201395-69201396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10487949	0.93[AMR][1000 genomes]
rs12164074	1.00[AMR][1000 genomes]
rs17140848	1.00[ASN][1000 genomes]
rs17140871	1.00[ASN][1000 genomes]
rs17141015	0.89[ASN][1000 genomes]
rs17349245	0.93[AMR][1000 genomes]
rs17353017	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17361399	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17361448	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17362481	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17362817	0.93[AMR][1000 genomes]
rs17457848	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17458533	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17459271	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17459369	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17459722	0.93[AMR][1000 genomes]
rs2158741	0.93[AMR][1000 genomes]
rs2270162	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4140975	0.94[ASN][1000 genomes]
rs55638715	0.93[AMR][1000 genomes]
rs58305621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58974518	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59797025	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6460529	0.84[ASN][1000 genomes]
rs6460531	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6968472	0.93[AMR][1000 genomes]
rs6970097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975213	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7781686	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7790458	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3394718	chr7:69194534-69238432	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1027399	chr7:69197011-69239721	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv538918	chr7:69197011-69239721	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69185000-69203000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:69193400-69202400	Weak transcription	Fetal Muscle Leg	muscle
3	chr7:69193400-69204200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:69193800-69203800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:69196000-69203000	Weak transcription	Fetal Lung	lung
6	chr7:69197400-69202800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:69197600-69202400	Weak transcription	Ovary	ovary
8	chr7:69197600-69202600	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:69197600-69202800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:69197600-69202800	Weak transcription	Fetal Brain Male	brain
11	chr7:69197600-69202800	Weak transcription	Fetal Heart	heart
12	chr7:69197600-69202800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:69197600-69203000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:69197600-69203400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr7:69198000-69202000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:69198000-69202400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr7:69198000-69202400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:69198000-69203000	Weak transcription	Fetal Kidney	kidney
19	chr7:69198000-69203400	Weak transcription	A549	lung
20	chr7:69198200-69203000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:69198200-69203400	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:69198200-69203400	Weak transcription	Fetal Intestine Small	intestine
23	chr7:69198400-69203000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:69198400-69203400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:69198600-69201600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:69198600-69202400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:69198600-69203000	Weak transcription	NHEK	skin
28	chr7:69199000-69202000	Weak transcription	Fetal Brain Female	brain
29	chr7:69199600-69203400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr7:69199800-69203400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:69200000-69203400	Weak transcription	Pancreas	Pancrea
32	chr7:69200000-69205400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr7:69200200-69201800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:69200400-69206000	Enhancers	Brain Germinal Matrix	brain
35	chr7:69200600-69201400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:69200600-69201600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:69200600-69205400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr7:69200600-69206200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:69200800-69202400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:69200800-69203200	Enhancers	Dnd41	blood
41	chr7:69200800-69203400	Weak transcription	Right Atrium	heart
42	chr7:69200800-69205200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr7:69200800-69205400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr7:69201000-69201800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:69201000-69205200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr7:69201200-69201400	Enhancers	H9 Cell Line	embryonic stem cell
47	chr7:69201200-69201400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:69201200-69201400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:69201200-69201800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:69201200-69205200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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