Variant report

Variant	rs6966726
Chromosome Location	chr7:7744266-7744267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7742832..7745558-chr7:7749813..7751585,2	K562	blood:
2	chr7:7737251..7739493-chr7:7744251..7746745,3	K562	blood:
3	chr7:7737993..7740091-chr7:7743068..7745751,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10229371	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10262410	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10263415	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10264890	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10277945	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11508478	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11773013	0.89[ASN][1000 genomes]
rs13232471	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13234728	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13239834	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13246995	0.89[ASN][1000 genomes]
rs1468762	0.83[ASN][1000 genomes]
rs17169379	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2057929	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2057930	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2057931	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2108001	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2108003	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2158715	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2160138	0.89[ASN][1000 genomes]
rs2881961	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4140802	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4140804	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4140805	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4720750	0.83[ASN][1000 genomes]
rs4725014	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6967126	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7791564	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7805143	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7805802	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs886725	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs886726	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9640047	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv887479	chr7:7681131-7779091	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv887481	chr7:7681576-7779324	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv887482	chr7:7682439-7785047	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv887483	chr7:7682439-7798217	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv887484	chr7:7692483-7769363	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv887485	chr7:7692483-7917360	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv606045	chr7:7704889-7755491	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv887486	chr7:7712498-7785047	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
17	nsv1026564	chr7:7734846-7897847	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	nsv887487	chr7:7740914-7802561	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7717800-7749000	Weak transcription	Fetal Intestine Small	intestine
2	chr7:7721600-7748800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr7:7722000-7750600	Weak transcription	Primary B cells from cord blood	blood
4	chr7:7722600-7744400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:7722600-7745600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr7:7726800-7745800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:7727800-7748800	Weak transcription	Small Intestine	intestine
8	chr7:7735400-7746600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:7735400-7746800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:7735600-7744400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:7736400-7746600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:7736600-7744600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:7736800-7744400	Weak transcription	NHEK	skin
14	chr7:7736800-7745400	Weak transcription	HSMM	muscle
15	chr7:7736800-7747000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:7736800-7748600	Weak transcription	Stomach Mucosa	stomach
17	chr7:7737000-7746200	Weak transcription	HSMMtube	muscle
18	chr7:7737000-7746400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:7737000-7746800	Weak transcription	Aorta	Aorta
20	chr7:7737400-7745600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:7737600-7747000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:7737600-7778800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:7739400-7744600	Weak transcription	NHLF	lung
24	chr7:7739400-7745400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:7739400-7749000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:7739600-7747200	Weak transcription	Osteobl	bone
27	chr7:7739600-7747400	Weak transcription	Colon Smooth Muscle	Colon
28	chr7:7739600-7748400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:7739800-7744600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:7739800-7746400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:7740000-7759000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr7:7740600-7744600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:7741600-7744600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr7:7741600-7746400	Weak transcription	Fetal Heart	heart
35	chr7:7741600-7746800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr7:7741800-7746400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:7742600-7744600	Weak transcription	GM12878-XiMat	blood
38	chr7:7742800-7744600	Weak transcription	Ovary	ovary
39	chr7:7742800-7745400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:7742800-7746200	Weak transcription	NHDF-Ad	bronchial
41	chr7:7742800-7746400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:7743000-7744600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr7:7743000-7745200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr7:7743400-7745400	Enhancers	Brain Germinal Matrix	brain
45	chr7:7743400-7746400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:7743600-7744600	Weak transcription	Adipose Nuclei	Adipose
47	chr7:7743600-7747000	Weak transcription	Left Ventricle	heart
48	chr7:7743600-7747400	Weak transcription	HepG2	liver
49	chr7:7743600-7749000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr7:7743600-7762800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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