Variant report

Variant	rs6949950
Chromosome Location	chr7:128914818-128914819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10248810	0.93[ASN][1000 genomes]
rs10257620	0.81[EUR][1000 genomes]
rs10954226	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11763056	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11763325	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11769045	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11979476	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12111832	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12112374	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12216567	0.91[ASN][1000 genomes]
rs13226649	0.93[ASN][1000 genomes]
rs13235668	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13235749	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1473236	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1526900	0.80[ASN][1000 genomes]
rs17168512	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1880854	0.98[ASN][1000 genomes]
rs2012919	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2056694	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2103232	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2141075	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2402944	0.96[ASN][1000 genomes]
rs2402945	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2566877	0.82[EUR][1000 genomes]
rs2566885	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2566886	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2694572	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2718084	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2718086	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2718089	0.97[ASN][1000 genomes]
rs2718093	0.98[ASN][1000 genomes]
rs2718096	0.96[ASN][1000 genomes]
rs4440569	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4731569	0.82[ASN][1000 genomes]
rs55638303	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56026912	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59659852	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60275163	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6467233	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6467235	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6467237	0.96[ASN][1000 genomes]
rs6467240	0.93[ASN][1000 genomes]
rs6467241	0.93[ASN][1000 genomes]
rs6467242	0.92[ASN][1000 genomes]
rs6467243	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66538149	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66864889	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66970518	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67520056	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67820265	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67853067	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67997229	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68076553	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68184415	0.93[ASN][1000 genomes]
rs68187585	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6942756	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6946938	0.80[ASN][1000 genomes]
rs6948252	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6967464	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971917	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6974155	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980385	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73472312	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7778277	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7780886	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7782348	0.93[ASN][1000 genomes]
rs7788327	0.93[ASN][1000 genomes]
rs7792317	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7794622	0.93[ASN][1000 genomes]
rs7803052	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7806089	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9640854	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9641849	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9649530	0.82[ASN][1000 genomes]
rs9649531	0.82[ASN][1000 genomes]

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	esv3349195	chr7:128887559-128918489	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv525482	chr7:128890812-129045191	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv516498	chr7:128901429-129072024	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128897400-128919400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:128898800-128919600	Weak transcription	Right Ventricle	heart
3	chr7:128900000-128925000	Weak transcription	Psoas Muscle	Psoas
4	chr7:128902600-128934000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr7:128902800-128928600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:128903000-128929200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:128903200-128925000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:128903400-128931400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr7:128903400-128933800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:128905200-128922800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:128905800-128932200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:128907800-128924400	Weak transcription	Small Intestine	intestine
13	chr7:128909800-128925600	Weak transcription	Left Ventricle	heart
14	chr7:128910200-128924800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:128911000-128934400	Weak transcription	Brain Angular Gyrus	brain
16	chr7:128911800-128921400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr7:128911800-128925000	Weak transcription	Adipose Nuclei	Adipose
18	chr7:128911800-128930600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:128912000-128925000	Weak transcription	Brain Substantia Nigra	brain
20	chr7:128912000-128925000	Weak transcription	Ovary	ovary
21	chr7:128912000-128927000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr7:128912200-128925600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:128912200-128947000	Weak transcription	Pancreas	Pancrea
24	chr7:128913200-128916200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:128913200-128940800	Weak transcription	Aorta	Aorta
26	chr7:128913400-128915200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:128913400-128926000	Weak transcription	Fetal Thymus	thymus
28	chr7:128914000-128915000	Strong transcription	Primary T cells from cord blood	blood
29	chr7:128914000-128921600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr7:128914000-128934400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:128914200-128915000	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr7:128914200-128915200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:128914200-128933400	Weak transcription	Primary B cells from cord blood	blood
34	chr7:128914400-128915000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:128914400-128915200	Strong transcription	Fetal Intestine Small	intestine
36	chr7:128914400-128915400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr7:128914400-128919200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:128914400-128919400	Weak transcription	HMEC	breast
39	chr7:128914400-128920800	Weak transcription	Dnd41	blood
40	chr7:128914400-128925000	Weak transcription	Brain Anterior Caudate	brain
41	chr7:128914600-128919200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:128914600-128919400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:128914600-128919600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr7:128914600-128922800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:128914600-128929000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr7:128914800-128915000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:128914800-128915000	Strong transcription	Brain Hippocampus Middle	brain
48	chr7:128914800-128915000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr7:128914800-128915200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:128914800-128915200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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