Variant report

Variant	rs11713005
Chromosome Location	chr3:196075617-196075618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:2234775..2236762-chr3:196074276..196076794,2	MCF-7	breast:
2	chr3:196075057..196077486-chr3:196084676..196086437,2	K562	blood:
3	chr3:196040934..196046683-chr3:196067954..196076269,13	MCF-7	breast:
4	chr3:196074413..196075944-chr3:196157333..196159734,2	MCF-7	breast:
5	chr3:196072873..196076573-chr3:196158373..196161329,3	MCF-7	breast:
6	chr3:196074463..196076751-chr3:196080961..196082599,3	MCF-7	breast:
7	chr3:196075208..196077147-chr3:196092835..196095668,2	MCF-7	breast:
8	chr3:196067298..196070005-chr3:196075365..196077810,2	K562	blood:
9	chr3:196068348..196070158-chr3:196074928..196076712,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163960	Chromatin interaction
ENSG00000212146	Chromatin interaction
ENSG00000235897	Chromatin interaction
ENSG00000104886	Chromatin interaction
ENSG00000272741	Chromatin interaction
ENSG00000213123	Chromatin interaction
ENSG00000225822	Chromatin interaction
ENSG00000104897	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11185525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185536	0.82[EUR][1000 genomes]
rs12487829	0.82[EUR][1000 genomes]
rs6770487	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6770643	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1009811	chr3:195851796-196138071	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv1009178	chr3:195864466-196081670	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
4	nsv536892	chr3:195864466-196081670	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
5	nsv1003550	chr3:195885340-196159824	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
6	nsv536893	chr3:195885340-196159824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
7	nsv1014563	chr3:195934010-196085951	Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv878182	chr3:195974181-196228360	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv1003764	chr3:196028141-196190687	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
12	nsv536895	chr3:196028141-196190687	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
13	nsv4183	chr3:196034067-196079109	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	esv1836491	chr3:196051403-196078427	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	esv1844755	chr3:196057616-196190350	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
16	nsv469831	chr3:196071603-196235225	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
17	nsv482542	chr3:196071603-196235225	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
18	nsv878183	chr3:196072442-196181228	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11713005	RNF168	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196054600-196091000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:196065600-196080800	Weak transcription	HSMMtube	muscle
3	chr3:196065600-196082400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:196065600-196082600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:196065600-196084200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:196066200-196081200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:196068000-196079000	Weak transcription	Fetal Intestine Small	intestine
8	chr3:196068000-196080800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:196068400-196075800	Weak transcription	NH-A	brain
10	chr3:196068600-196076600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:196068600-196077600	Weak transcription	Osteobl	bone
12	chr3:196068600-196080800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:196068600-196081000	Weak transcription	NHDF-Ad	bronchial
14	chr3:196070000-196080600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:196070400-196076000	Weak transcription	Esophagus	oesophagus
16	chr3:196070400-196082200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:196070400-196082200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:196070400-196082400	Weak transcription	HMEC	breast
19	chr3:196070600-196082600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:196070600-196106400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:196070800-196080800	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:196070800-196081200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr3:196070800-196081800	Weak transcription	Brain Germinal Matrix	brain
24	chr3:196070800-196082600	Weak transcription	Aorta	Aorta
25	chr3:196071000-196081000	Weak transcription	NHEK	skin
26	chr3:196071000-196081200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr3:196071000-196081400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr3:196071000-196082600	Weak transcription	Colon Smooth Muscle	Colon
29	chr3:196071200-196076000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:196071400-196080600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr3:196071400-196081000	Weak transcription	Brain Substantia Nigra	brain
32	chr3:196071800-196082600	Weak transcription	Gastric	stomach
33	chr3:196071800-196100800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr3:196072000-196080800	Weak transcription	NHLF	lung
35	chr3:196072200-196076600	Weak transcription	Adipose Nuclei	Adipose
36	chr3:196072200-196081200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr3:196072400-196080000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr3:196072400-196099600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:196072600-196082600	Weak transcription	Lung	lung
40	chr3:196072800-196077600	Weak transcription	Fetal Lung	lung
41	chr3:196072800-196080600	Weak transcription	Dnd41	blood
42	chr3:196072800-196081800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr3:196072800-196082200	Weak transcription	Brain Angular Gyrus	brain
44	chr3:196072800-196082200	Weak transcription	Fetal Heart	heart
45	chr3:196072800-196082600	Weak transcription	Fetal Kidney	kidney
46	chr3:196073000-196080800	Weak transcription	Ovary	ovary
47	chr3:196073000-196081000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr3:196073000-196082600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:196073000-196082600	Weak transcription	Spleen	Spleen
50	chr3:196073200-196076000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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