Variant report

Variant	rs2712225
Chromosome Location	chr7:107181411-107181412
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:107178929..107181687-chr7:107183616..107186437,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1015410	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1018869	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1024401	0.90[EUR][1000 genomes]
rs10244871	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10245210	0.81[EUR][1000 genomes]
rs10267978	0.91[EUR][1000 genomes]
rs10276321	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10953538	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12532304	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1468335	0.92[EUR][1000 genomes]
rs1858889	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2250410	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2253856	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2283042	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2520257	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2520258	0.91[EUR][1000 genomes]
rs2520259	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2520262	0.91[EUR][1000 genomes]
rs2520266	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2520270	0.94[EUR][1000 genomes]
rs2520272	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2520276	0.82[EUR][1000 genomes]
rs2520278	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2520279	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2712186	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2712188	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2712192	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2712194	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2712203	0.90[EUR][1000 genomes]
rs2712213	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2712217	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2712223	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28410326	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4588787	0.89[AMR][1000 genomes]
rs4610672	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4727682	0.91[EUR][1000 genomes]
rs60490203	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62483724	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6466172	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6466174	0.88[EUR][1000 genomes]
rs6945488	0.83[EUR][1000 genomes]
rs6962433	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6968804	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7786186	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7787113	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7805630	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1019963	chr7:107033342-107188641	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv539052	chr7:107033342-107188641	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv482365	chr7:107122401-107271861	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv608074	chr7:107179131-107260856	Weak transcription Enhancers Strong transcription Flanking Active TSS 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	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107126800-107184800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr7:107144800-107185000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:107146000-107185000	Weak transcription	Brain Hippocampus Middle	brain
4	chr7:107146400-107183800	Weak transcription	Ovary	ovary
5	chr7:107146400-107183800	Weak transcription	Thymus	Thymus
6	chr7:107146400-107184000	Weak transcription	Aorta	Aorta
7	chr7:107147600-107183600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:107149400-107183800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:107153800-107183800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:107154000-107193800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:107156400-107195000	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:107158000-107183800	Weak transcription	Esophagus	oesophagus
13	chr7:107161000-107185000	Weak transcription	HSMMtube	muscle
14	chr7:107162000-107184000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:107162200-107203400	Weak transcription	Fetal Kidney	kidney
16	chr7:107163000-107184400	Weak transcription	Colonic Mucosa	Colon
17	chr7:107163200-107184600	Weak transcription	NHLF	lung
18	chr7:107163400-107184200	Weak transcription	Fetal Thymus	thymus
19	chr7:107163600-107184800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr7:107164200-107185800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:107164600-107182800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr7:107164800-107185000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:107166600-107194600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:107167000-107184400	Weak transcription	Placenta	Placenta
25	chr7:107167400-107182600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:107167400-107183600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:107167400-107183800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:107167800-107183800	Weak transcription	HepG2	liver
29	chr7:107168600-107184800	Weak transcription	K562	blood
30	chr7:107169400-107183600	Weak transcription	HUVEC	blood vessel
31	chr7:107169400-107184400	Weak transcription	NHDF-Ad	bronchial
32	chr7:107169400-107185000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:107169400-107185000	Weak transcription	NH-A	brain
34	chr7:107169600-107186400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr7:107169800-107184800	Weak transcription	HMEC	breast
36	chr7:107170000-107183800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:107170000-107184000	Weak transcription	Pancreas	Pancrea
38	chr7:107170200-107182800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:107170200-107183800	Weak transcription	Left Ventricle	heart
40	chr7:107170200-107183800	Weak transcription	Right Ventricle	heart
41	chr7:107170200-107184000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:107170200-107184000	Weak transcription	Gastric	stomach
43	chr7:107170200-107185400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:107170200-107203600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:107170600-107185000	Weak transcription	Fetal Heart	heart
46	chr7:107172400-107183400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:107172800-107184000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr7:107172800-107185200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:107172800-107200200	Weak transcription	Psoas Muscle	Psoas
50	chr7:107174600-107185200	Weak transcription	Osteobl	bone

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