Variant report

Variant	rs191
Chromosome Location	chr7:27941269-27941270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10951187	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12538288	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1859109	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2097737	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs211	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs214	1.00[AFR][1000 genomes]
rs215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4722746	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6462060	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6951040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6958293	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6970113	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6972944	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73083394	0.94[EUR][1000 genomes]
rs7778340	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7783410	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7787507	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs916854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27926600-27956000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:27930000-27949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:27935600-27943200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:27937600-27945600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:27937600-27945600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:27937600-27945600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:27937600-27945600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:27937600-27953800	Weak transcription	Right Ventricle	heart
9	chr7:27937600-27956200	Weak transcription	Gastric	stomach
10	chr7:27937800-27945800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:27938200-27942400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:27938200-27943600	Enhancers	Primary B cells from peripheral blood	blood
13	chr7:27938400-27941800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr7:27939000-27945600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:27939000-27946400	Weak transcription	Brain Anterior Caudate	brain
16	chr7:27939200-27953000	Weak transcription	Left Ventricle	heart
17	chr7:27939600-27941400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:27939800-27942000	Weak transcription	Spleen	Spleen
19	chr7:27939800-27950200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:27939800-27950400	Weak transcription	Pancreas	Pancrea
21	chr7:27940400-27941400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:27940400-27941400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:27940400-27941400	Flanking Active TSS	GM12878-XiMat	blood
24	chr7:27940400-27941600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:27940600-27941400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:27940600-27941400	Flanking Active TSS	Liver	Liver
27	chr7:27940800-27941400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr7:27940800-27941400	Enhancers	Fetal Intestine Small	intestine
29	chr7:27940800-27941600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:27940800-27941600	Enhancers	Fetal Lung	lung
31	chr7:27940800-27941600	Enhancers	Fetal Stomach	stomach
32	chr7:27940800-27941600	Active TSS	HSMMtube	muscle
33	chr7:27940800-27942400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:27941000-27941400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:27941000-27941400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr7:27941000-27941400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:27941000-27941400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:27941000-27941400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:27941000-27941400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:27941000-27941400	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr7:27941000-27941400	Active TSS	Colonic Mucosa	Colon
42	chr7:27941000-27941400	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr7:27941000-27941400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr7:27941000-27941400	Enhancers	Esophagus	oesophagus
45	chr7:27941000-27941400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr7:27941000-27941400	Enhancers	Fetal Intestine Large	intestine
47	chr7:27941000-27941400	Enhancers	Fetal Muscle Trunk	muscle
48	chr7:27941000-27941400	Enhancers	Fetal Thymus	thymus
49	chr7:27941000-27941400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr7:27941000-27941400	Flanking Active TSS	Right Atrium	heart

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