Variant report

Variant	rs6964595
Chromosome Location	chr7:33141304-33141305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10245553	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10281469	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11760414	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11763923	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11766395	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11771864	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11773214	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11981778	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12667849	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12672159	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17393789	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17393824	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17472290	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17472556	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2021562	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2021883	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2022231	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2392220	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28465403	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28633587	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28654432	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2893463	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3750121	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3847009	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4083280	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4720102	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55862266	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56176900	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66617822	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66962586	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68111021	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6947994	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6948361	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6963955	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976971	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6980186	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73093561	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7783079	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7800322	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv830942	chr7:33048075-33246735	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv508450	chr7:33123335-33184848	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1033502	chr7:33124005-33185470	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1025361	chr7:33125663-33185470	Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv869720	chr7:33127192-33193580	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1026615	chr7:33128234-33185470	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1020741	chr7:33130675-33185470	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1027807	chr7:33130675-33190591	Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	esv2761318	chr7:33130687-33185482	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv464422	chr7:33131729-33187279	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv606606	chr7:33131729-33187279	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv606607	chr7:33131729-33192502	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv464423	chr7:33131729-33192800	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv606608	chr7:33131729-33192800	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv520406	chr7:33131729-33192837	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	nsv606609	chr7:33131729-33196354	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	nsv1030007	chr7:33132814-33185470	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv1028637	chr7:33133742-33185470	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33115800-33148000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:33127800-33147000	Weak transcription	Right Atrium	heart
3	chr7:33131200-33147400	Weak transcription	Small Intestine	intestine
4	chr7:33131800-33143400	Strong transcription	Fetal Muscle Leg	muscle
5	chr7:33132000-33143400	Strong transcription	Primary T cells from cord blood	blood
6	chr7:33132000-33146600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:33132200-33146200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:33132400-33143400	Strong transcription	Fetal Intestine Large	intestine
9	chr7:33132400-33143600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:33132400-33143800	Strong transcription	Dnd41	blood
11	chr7:33132400-33143800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr7:33132600-33143400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:33132600-33143400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:33132600-33143400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:33132600-33143400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:33132600-33143400	Strong transcription	Fetal Stomach	stomach
17	chr7:33132600-33143600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:33132600-33143600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:33132600-33144400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:33132800-33141400	Strong transcription	Liver	Liver
21	chr7:33132800-33142800	Strong transcription	HSMM	muscle
22	chr7:33132800-33143400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:33132800-33143400	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:33132800-33144000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:33132800-33144000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:33132800-33144200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr7:33132800-33144800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:33133000-33143200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:33133000-33143200	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:33133000-33143400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:33133400-33143400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:33133400-33143400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr7:33133400-33143600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:33133400-33143600	Strong transcription	Placenta	Placenta
35	chr7:33133600-33143400	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr7:33134000-33143200	Strong transcription	HSMMtube	muscle
37	chr7:33134000-33146800	Weak transcription	Stomach Mucosa	stomach
38	chr7:33135000-33143000	Strong transcription	NH-A	brain
39	chr7:33135200-33142400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr7:33135200-33143400	Strong transcription	HepG2	liver
41	chr7:33135200-33143600	Strong transcription	Hela-S3	cervix
42	chr7:33135400-33143000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
43	chr7:33135400-33143800	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:33136200-33146600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr7:33136200-33147000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:33136400-33147800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:33137000-33143400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:33137200-33141800	Weak transcription	Colon Smooth Muscle	Colon
49	chr7:33137800-33143200	Strong transcription	Brain Cingulate Gyrus	brain
50	chr7:33138800-33141400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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