Variant report

Variant	rs6775963
Chromosome Location	chr3:120136518-120136519
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:120066683..120069850-chr3:120134285..120137656,5	MCF-7	breast:
2	chr3:120066496..120069971-chr3:120134010..120137845,6	MCF-7	breast:
3	chr3:120135734..120138028-chr3:120174472..120177330,2	MCF-7	breast:
4	chr3:119962768..119964437-chr3:120135476..120136895,30	MCF-7	breast:
5	chr3:120135445..120137288-chr3:120277206..120278376,12	MCF-7	breast:
6	chr3:119963238..119963780-chr3:120135734..120136679,3	K562	blood:
7	chr3:119961796..119964047-chr3:120135091..120137242,3	MCF-7	breast:
8	chr3:120136391..120139340-chr3:120276034..120279006,3	MCF-7	breast:
9	chr3:119962839..119964077-chr3:120135742..120136880,9	MCF-7	breast:
10	chr3:120135893..120137729-chr3:120167558..120169629,2	MCF-7	breast:
11	chr3:120136359..120137013-chr3:120225836..120226697,2	MCF-7	breast:
12	chr3:120136351..120139286-chr3:120156446..120159592,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000240661	Chromatin interaction
ENSG00000175697	Chromatin interaction
ENSG00000163428	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12173	0.87[EUR][1000 genomes]
rs12192	0.87[EUR][1000 genomes]
rs1259293	0.80[AFR][1000 genomes]
rs13081675	0.88[EUR][1000 genomes]
rs13081694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13088020	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13096973	0.88[EUR][1000 genomes]
rs13097755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13100865	0.91[EUR][1000 genomes]
rs1879434	0.83[AFR][1000 genomes]
rs2091726	0.90[EUR][1000 genomes]
rs2272515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33935225	0.87[EUR][1000 genomes]
rs34446218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34805176	0.86[EUR][1000 genomes]
rs36001904	0.81[EUR][1000 genomes]
rs36068602	0.90[EUR][1000 genomes]
rs3755558	0.87[EUR][1000 genomes]
rs4676781	0.90[EUR][1000 genomes]
rs4676782	0.88[EUR][1000 genomes]
rs4676783	0.87[EUR][1000 genomes]
rs56100867	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120114400-120143200	Weak transcription	Small Intestine	intestine
2	chr3:120115800-120151000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:120128200-120137600	Weak transcription	Gastric	stomach
4	chr3:120132400-120136600	Weak transcription	Aorta	Aorta
5	chr3:120134600-120137000	Enhancers	Right Ventricle	heart
6	chr3:120135000-120137600	Weak transcription	Lung	lung
7	chr3:120135400-120136600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:120135400-120136600	Genic enhancers	Fetal Stomach	stomach
9	chr3:120135400-120139400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:120135400-120151600	Genic enhancers	Osteobl	bone
11	chr3:120135600-120136600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:120135600-120136800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:120135600-120141600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:120135800-120136800	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr3:120135800-120136800	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr3:120135800-120136800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr3:120135800-120136800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr3:120135800-120136800	Flanking Active TSS	Dnd41	blood
19	chr3:120135800-120137000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:120135800-120137000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:120135800-120137000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr3:120135800-120137000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr3:120135800-120138200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr3:120135800-120138200	Enhancers	Stomach Mucosa	stomach
25	chr3:120135800-120138600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr3:120136000-120136600	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr3:120136000-120136600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:120136000-120136600	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr3:120136000-120136600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:120136000-120136600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr3:120136000-120136600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:120136000-120136600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:120136000-120136600	Active TSS	Brain Hippocampus Middle	brain
34	chr3:120136000-120136600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr3:120136000-120136600	Active TSS	Colonic Mucosa	Colon
36	chr3:120136000-120136600	Active TSS	Fetal Intestine Small	intestine
37	chr3:120136000-120136600	Active TSS	Pancreas	Pancrea
38	chr3:120136000-120136800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr3:120136000-120136800	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr3:120136000-120136800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr3:120136000-120136800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr3:120136000-120136800	Flanking Active TSS	Liver	Liver
43	chr3:120136000-120136800	Active TSS	Psoas Muscle	Psoas
44	chr3:120136000-120137600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:120136000-120137600	Weak transcription	Spleen	Spleen
46	chr3:120136200-120136600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:120136200-120136600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr3:120136200-120136600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr3:120136200-120136600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr3:120136200-120136600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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