Variant report

Variant	rs6963571
Chromosome Location	chr7:21976887-21976888
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:21976274..21979675-chr7:21983626..21985633,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164649	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10950883	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1128250	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12055905	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12055908	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12539984	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12673256	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1919906	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55658106	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57033293	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57082026	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59258063	0.83[EUR][1000 genomes]
rs62445924	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62445926	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62445928	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62445933	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62445935	0.82[ASN][1000 genomes]
rs6959493	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6959806	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6978094	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7798564	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7807924	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018133	chr7:21740118-22055283	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1027453	chr7:21918474-21982448	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv275068	chr7:21966107-21980773	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6963571	CDCA7L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21938600-21984000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:21948800-21981000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:21951600-21982600	Weak transcription	HSMM	muscle
4	chr7:21952600-21977400	Weak transcription	NHDF-Ad	bronchial
5	chr7:21955000-21979000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:21955000-21979200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:21955000-21979600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:21955000-21981000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:21956000-21981000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:21956400-21980200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:21956600-21983600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:21963400-21979200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:21963600-21983600	Weak transcription	Ovary	ovary
14	chr7:21964000-21979200	Weak transcription	Hela-S3	cervix
15	chr7:21964200-21977400	Weak transcription	HUVEC	blood vessel
16	chr7:21965200-21982400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:21966600-21981000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:21967000-21977600	Weak transcription	NHEK	skin
19	chr7:21967600-21979000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:21967800-21978000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:21967800-21978800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:21967800-21979200	Weak transcription	Thymus	Thymus
23	chr7:21967800-21979600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:21967800-21982000	Weak transcription	Fetal Stomach	stomach
25	chr7:21970800-21978400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:21972800-21979200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:21973200-21981200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr7:21973200-21984200	Weak transcription	Esophagus	oesophagus
29	chr7:21973800-21977600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:21973800-21978800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:21974000-21979200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr7:21974200-21977800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:21974200-21978800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:21974600-21979200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
35	chr7:21974800-21978000	Weak transcription	Fetal Heart	heart
36	chr7:21974800-21981000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr7:21975000-21978400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr7:21975000-21979200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr7:21975400-21978800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:21975600-21977600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
41	chr7:21975600-21978400	Weak transcription	Left Ventricle	heart
42	chr7:21975800-21978200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:21975800-21980600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr7:21975800-21982600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr7:21976000-21977000	ZNF genes & repeats	Primary T cells from cord blood	blood
46	chr7:21976200-21978000	Strong transcription	Fetal Lung	lung
47	chr7:21976200-21979600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:21976200-21982400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr7:21976400-21977600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr7:21976400-21978000	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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