Variant report

Variant	rs35394048
Chromosome Location	chr7:8076695-8076696
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	chr7:8006781..8009686-chr7:8074600..8077237,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106415	Chromatin interaction
ENSG00000233108	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12702689	0.96[ASN][1000 genomes]
rs13222222	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13223417	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13223995	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13225545	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs13237185	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13239966	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13240739	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13242904	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13245917	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34059590	0.96[ASN][1000 genomes]
rs34156160	1.00[ASN][1000 genomes]
rs34318095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34475980	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34746652	0.96[ASN][1000 genomes]
rs34783749	1.00[EUR][1000 genomes]
rs34955320	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35009545	1.00[ASN][1000 genomes]
rs35044198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35108922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35143180	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs35171936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35225784	1.00[EUR][1000 genomes]
rs35240411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35509690	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs35567393	1.00[ASN][1000 genomes]
rs35572840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35627160	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35630009	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35641104	0.96[ASN][1000 genomes]
rs36015287	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36022646	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36028057	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58769447	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6969431	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71533384	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71533385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71533389	1.00[EUR][1000 genomes]
rs71533390	1.00[EUR][1000 genomes]
rs7800750	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7801299	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7807433	0.83[EUR][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	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
2	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv518779	chr7:8055664-8077359	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1793794	chr7:8064509-8078802	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8036400-8077400	Weak transcription	Right Ventricle	heart
2	chr7:8041600-8095000	Weak transcription	Gastric	stomach
3	chr7:8043000-8099200	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:8047600-8108200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:8064400-8096200	Weak transcription	NHLF	lung
6	chr7:8065000-8076800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:8065000-8095000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:8065000-8108600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:8066400-8090800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:8066400-8096600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr7:8066400-8127600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr7:8066600-8077000	Weak transcription	Fetal Heart	heart
13	chr7:8066600-8082000	Weak transcription	Osteobl	bone
14	chr7:8066600-8099800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:8066600-8126000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:8066800-8082600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr7:8066800-8091200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:8066800-8095000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:8066800-8095600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr7:8066800-8099800	Weak transcription	Brain Anterior Caudate	brain
21	chr7:8066800-8108600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:8067000-8078400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:8067000-8091800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:8067000-8135400	Weak transcription	Pancreas	Pancrea
25	chr7:8067200-8084000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:8067200-8095600	Weak transcription	Fetal Lung	lung
27	chr7:8067400-8082800	Weak transcription	Hela-S3	cervix
28	chr7:8067600-8095800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:8068000-8076800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:8068000-8095600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:8069800-8095800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:8074200-8077200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:8074200-8077400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:8074200-8078400	Strong transcription	Dnd41	blood
35	chr7:8074200-8078600	ZNF genes & repeats	GM12878-XiMat	blood
36	chr7:8074400-8076800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:8074400-8077400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
38	chr7:8074600-8077200	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr7:8075000-8108600	Weak transcription	Psoas Muscle	Psoas
40	chr7:8075000-8125800	Weak transcription	Lung	lung
41	chr7:8075000-8126800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:8075200-8078600	Strong transcription	Primary B cells from cord blood	blood
43	chr7:8075400-8078600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr7:8075600-8076800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:8075600-8076800	ZNF genes & repeats	Brain Substantia Nigra	brain
46	chr7:8075600-8077600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:8075600-8078600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:8075600-8080000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:8075600-8080000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr7:8075600-8082400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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