Variant report

Variant	rs7782453
Chromosome Location	chr7:138167955-138167956
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:138165875-138168933	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:138167129-138168081	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138143601..138146619-chr7:138166848..138169714,4	K562	blood:

Variant related genes	Relation type
ENSG00000239123	TF binding region
ENSG00000122779	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10236035	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10271000	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10279876	1.00[ASN][1000 genomes]
rs11761566	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11763093	1.00[ASN][1000 genomes]
rs11773577	1.00[ASN][1000 genomes]
rs12707387	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707388	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13230953	1.00[ASN][1000 genomes]
rs13231375	1.00[ASN][1000 genomes]
rs13242427	1.00[ASN][1000 genomes]
rs3213902	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34718165	1.00[ASN][1000 genomes]
rs35558871	1.00[ASN][1000 genomes]
rs35674497	1.00[ASN][1000 genomes]
rs4535683	0.81[EUR][1000 genomes]
rs55918517	1.00[ASN][1000 genomes]
rs6467774	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6467777	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467779	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6467781	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67586210	1.00[ASN][1000 genomes]
rs6946420	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6962037	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6970145	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799818	1.00[ASN][1000 genomes]
rs7803989	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811152	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv981589	chr7:138163846-138177455	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138147200-138168400	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:138147200-138183800	Weak transcription	Primary B cells from cord blood	blood
3	chr7:138147200-138189000	Weak transcription	Thymus	Thymus
4	chr7:138149800-138188600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:138153800-138184200	Weak transcription	Fetal Stomach	stomach
6	chr7:138155200-138184200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:138157600-138191400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:138160200-138175000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:138160600-138168400	Weak transcription	Gastric	stomach
10	chr7:138160600-138182200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:138161800-138195800	Weak transcription	Fetal Brain Female	brain
12	chr7:138162000-138175200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:138163600-138168200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr7:138163600-138168600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:138163600-138183400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:138163600-138184000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:138163600-138184200	Weak transcription	Aorta	Aorta
18	chr7:138163600-138184200	Weak transcription	Fetal Thymus	thymus
19	chr7:138163800-138168200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:138163800-138175400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:138164000-138191400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:138164000-138199800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:138164200-138170000	Weak transcription	Fetal Intestine Large	intestine
24	chr7:138164200-138173400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:138164400-138168200	Weak transcription	GM12878-XiMat	blood
26	chr7:138164400-138175400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:138164400-138175400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:138164400-138176800	Weak transcription	Pancreas	Pancrea
29	chr7:138164400-138184200	Weak transcription	Ovary	ovary
30	chr7:138164800-138168600	Weak transcription	Lung	lung
31	chr7:138165000-138168200	Weak transcription	Stomach Mucosa	stomach
32	chr7:138165000-138169000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr7:138165000-138192000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:138165400-138168600	Weak transcription	NH-A	brain
35	chr7:138165600-138168400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr7:138165600-138175600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr7:138165600-138184000	Weak transcription	Primary T cells from cord blood	blood
38	chr7:138165800-138168000	Strong transcription	Fetal Intestine Small	intestine
39	chr7:138166000-138168600	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:138166400-138168200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:138166600-138184000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr7:138166800-138169400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:138166800-138175200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr7:138166800-138175800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr7:138167000-138168200	Weak transcription	Liver	Liver
46	chr7:138167000-138169600	Enhancers	HepG2	liver
47	chr7:138167000-138177800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:138167200-138168000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:138167200-138168400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr7:138167400-138169800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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