Variant report

Variant	rs62454714
Chromosome Location	chr7:6514321-6514322
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:6511092-6518405	IMR90	lung:	n/a	n/a
2	POLR2A	chr7:6514031-6514622	GM12892	blood:	n/a	n/a
3	POLR2A	chr7:6513876-6517252	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:6514200-6514653	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:6513950-6514427	HepG2	liver:	n/a	n/a
6	CTCF	chr7:6514315-6514396	MCF-7	breast:	n/a	n/a
7	CTCF	chr7:6514307-6514380	MCF-7	breast:	n/a	n/a
8	POLR2A	chr7:6513741-6514494	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:6514280-6514420	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:6513885-6514380	K562	blood:	n/a	n/a
11	POLR2A	chr7:6511024-6519040	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6509730..6517655-chr7:6520090..6524473,18	K562	blood:
2	chr7:6487637..6489656-chr7:6514192..6516850,2	MCF-7	breast:
3	chr7:6512128..6515104-chr7:6522294..6524698,2	MCF-7	breast:
4	chr7:6499717..6507603-chr7:6511410..6517764,12	K562	blood:

No data

Variant related genes	Relation type
KDELR2	TF binding region
ENSG00000136240	Chromatin interaction
ENSG00000269781	Chromatin interaction
ENSG00000164535	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10951985	0.84[ASN][1000 genomes]
rs11761728	1.00[ASN][1000 genomes]
rs11768661	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11773436	0.81[ASN][1000 genomes]
rs12112241	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12702511	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12702512	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12702514	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13222291	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13240753	0.98[ASN][1000 genomes]
rs17136294	0.87[ASN][1000 genomes]
rs4574760	0.84[ASN][1000 genomes]
rs4720675	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55707863	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6974535	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9801058	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv1026878	chr7:6490387-6592374	Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 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	chr7:6497800-6515600	Weak transcription	Psoas Muscle	Psoas
2	chr7:6499600-6515200	Strong transcription	Fetal Intestine Large	intestine
3	chr7:6499600-6516200	Strong transcription	Fetal Stomach	stomach
4	chr7:6499600-6521800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:6499800-6514800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:6499800-6515600	Strong transcription	NH-A	brain
7	chr7:6499800-6517000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:6500000-6514600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:6500000-6515000	Strong transcription	Stomach Smooth Muscle	stomach
10	chr7:6500000-6515400	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr7:6500000-6515400	Strong transcription	HUVEC	blood vessel
12	chr7:6500000-6516000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr7:6500000-6516200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr7:6500000-6516400	Strong transcription	Fetal Thymus	thymus
15	chr7:6500200-6515200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr7:6500200-6515400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr7:6500200-6516200	Strong transcription	Placenta	Placenta
18	chr7:6500200-6516400	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:6500800-6514600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr7:6500800-6517000	Strong transcription	Dnd41	blood
21	chr7:6501200-6516000	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr7:6501400-6515000	Strong transcription	Duodenum Mucosa	Duodenum
23	chr7:6501800-6514400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:6502800-6515200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:6503600-6515600	Strong transcription	Osteobl	bone
26	chr7:6503600-6522800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr7:6505000-6514600	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:6505000-6514800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:6505000-6514800	Strong transcription	HSMM	muscle
30	chr7:6505000-6521400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr7:6505200-6514400	Strong transcription	Gastric	stomach
32	chr7:6505200-6514400	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr7:6505200-6515400	Strong transcription	NHLF	lung
34	chr7:6505800-6514800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:6506400-6516000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:6506600-6514400	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr7:6506800-6516600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:6507000-6519400	Weak transcription	Fetal Heart	heart
39	chr7:6507200-6514600	Strong transcription	A549	lung
40	chr7:6507400-6516400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr7:6507600-6514800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:6507600-6522400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:6507800-6514800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr7:6507800-6514800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:6507800-6522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr7:6508000-6520200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:6508000-6522000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:6509000-6514600	Strong transcription	GM12878-XiMat	blood
49	chr7:6509000-6516200	Strong transcription	NHDF-Ad	bronchial
50	chr7:6509200-6517600	Strong transcription	K562	blood

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