Variant report

Variant	rs2462654
Chromosome Location	chr7:6777962-6777963
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10244591	0.84[ASN][1000 genomes]
rs10272921	0.83[ASN][1000 genomes]
rs10951994	0.82[ASN][1000 genomes]
rs12536067	0.82[ASN][1000 genomes]
rs12536107	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs13247186	0.82[ASN][1000 genomes]
rs28494902	0.82[ASN][1000 genomes]
rs34857592	0.82[ASN][1000 genomes]
rs34899283	0.85[ASN][1000 genomes]
rs35121012	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs35291651	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs35644498	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs35768299	0.85[ASN][1000 genomes]
rs62439727	0.84[ASN][1000 genomes]
rs62439737	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs62439743	0.82[ASN][1000 genomes]
rs7779296	0.83[ASN][1000 genomes]
rs7784521	0.84[ASN][1000 genomes]
rs7796846	0.84[ASN][1000 genomes]
rs7804542	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv887439	chr7:6736332-6791749	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1015646	chr7:6738483-6779270	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv887440	chr7:6743097-6820508	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv887441	chr7:6744957-6919214	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	esv1819001	chr7:6746810-6785602	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv966754	chr7:6750289-6838266	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv887442	chr7:6753286-6820508	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv887443	chr7:6753286-6832265	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv887444	chr7:6753286-6855510	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv887445	chr7:6758018-6843722	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv887446	chr7:6758018-6870635	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv887447	chr7:6764583-6843722	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers 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	9 gene(s)	inside rSNPs	diseases
14	nsv887448	chr7:6764583-6855510	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv887449	chr7:6764583-6870635	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	esv2757207	chr7:6764583-6977214	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	esv2759504	chr7:6764583-6977214	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6770000-6783400	Weak transcription	Aorta	Aorta
2	chr7:6770200-6779000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:6770200-6779200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:6770200-6782600	Weak transcription	Small Intestine	intestine
5	chr7:6770400-6778400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:6770400-6784800	Weak transcription	NHLF	lung
7	chr7:6770800-6786400	Weak transcription	Fetal Brain Male	brain
8	chr7:6771000-6778200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:6771000-6778800	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:6771000-6782000	Strong transcription	Fetal Stomach	stomach
11	chr7:6771000-6786200	Weak transcription	HUVEC	blood vessel
12	chr7:6771000-6786400	Weak transcription	Primary B cells from cord blood	blood
13	chr7:6771200-6778600	Weak transcription	Fetal Heart	heart
14	chr7:6771200-6780200	Weak transcription	Right Atrium	heart
15	chr7:6771200-6781400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr7:6771200-6792400	Weak transcription	NHEK	skin
17	chr7:6771600-6781800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:6771800-6780400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:6771800-6783400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:6772000-6778000	Strong transcription	Fetal Muscle Leg	muscle
21	chr7:6772000-6778200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:6772000-6778200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr7:6772000-6778200	Strong transcription	Fetal Intestine Small	intestine
24	chr7:6772000-6780400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr7:6772000-6780400	Strong transcription	Fetal Thymus	thymus
26	chr7:6772000-6781600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:6772000-6782000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:6772000-6782600	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr7:6772000-6782600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr7:6772200-6778000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:6772200-6780600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:6772400-6780600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:6772400-6780600	Strong transcription	Placenta	Placenta
34	chr7:6772400-6783200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:6772600-6780400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr7:6772800-6787000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:6773000-6783200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr7:6773000-6786400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr7:6773200-6780200	Strong transcription	Lung	lung
40	chr7:6773400-6788200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr7:6773600-6784400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:6774000-6782000	Weak transcription	Hela-S3	cervix
43	chr7:6774600-6780400	Strong transcription	Adipose Nuclei	Adipose
44	chr7:6774600-6780400	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr7:6775400-6781800	Weak transcription	HMEC	breast
46	chr7:6775800-6785000	Weak transcription	NH-A	brain
47	chr7:6776200-6783200	Weak transcription	Right Ventricle	heart
48	chr7:6777000-6780200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr7:6777200-6780200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:6777200-6784000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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