Variant report

Variant	rs72955214
Chromosome Location	chr6:74443222-74443223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:74384906..74385868-chr6:74442482..74443553,12	MCF-7	breast:
2	chr6:74397251..74397977-chr6:74442611..74443449,3	MCF-7	breast:
3	chr6:74362119..74363006-chr6:74442455..74443360,3	MCF-7	breast:
4	chr6:74406472..74407423-chr6:74442579..74443307,2	MCF-7	breast:
5	chr6:74384825..74386124-chr6:74442444..74443477,21	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs41265535	1.00[AFR][1000 genomes]
rs45474895	1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs45620342	0.87[AMR][1000 genomes]
rs55818648	1.00[AFR][1000 genomes]
rs55860270	1.00[AFR][1000 genomes]
rs55878103	0.84[ASN][1000 genomes]
rs56201021	0.84[ASN][1000 genomes]
rs56286966	1.00[AFR][1000 genomes]
rs72953369	1.00[AFR][1000 genomes]
rs72953375	1.00[AFR][1000 genomes]
rs72953390	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72953401	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72955232	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
2	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
4	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	172 gene(s)	inside rSNPs	diseases
5	nsv463154	chr6:74412048-74775904	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv603695	chr6:74412048-74775904	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74408000-74446800	Weak transcription	Dnd41	blood
2	chr6:74414800-74474600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:74425000-74443600	Weak transcription	Lung	lung
4	chr6:74425200-74475800	Weak transcription	Hela-S3	cervix
5	chr6:74425400-74483200	Weak transcription	A549	lung
6	chr6:74430600-74455400	Weak transcription	Right Ventricle	heart
7	chr6:74432400-74444200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:74433000-74448000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:74433000-74456400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr6:74433000-74456400	Weak transcription	HSMM	muscle
11	chr6:74433400-74448600	Weak transcription	NH-A	brain
12	chr6:74433400-74456400	Weak transcription	NHLF	lung
13	chr6:74433600-74455000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr6:74434600-74448400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:74435200-74443800	Weak transcription	Thymus	Thymus
16	chr6:74435400-74448200	Weak transcription	Adipose Nuclei	Adipose
17	chr6:74435600-74445200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr6:74435600-74454600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr6:74435800-74475400	Weak transcription	Primary T cells from cord blood	blood
20	chr6:74438400-74527200	Weak transcription	Esophagus	oesophagus
21	chr6:74439600-74446200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:74439600-74451200	Strong transcription	HMEC	breast
23	chr6:74439800-74444400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:74440000-74444200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:74440200-74451000	Strong transcription	Primary hematopoietic stem cells	blood
26	chr6:74440400-74447200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr6:74441200-74444000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:74441200-74445600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:74441400-74449800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:74441400-74473200	Weak transcription	HUVEC	blood vessel
31	chr6:74441400-74544400	Weak transcription	Aorta	Aorta
32	chr6:74441800-74443400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:74441800-74443400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr6:74442200-74443400	Enhancers	Colon Smooth Muscle	Colon
35	chr6:74442200-74444000	Strong transcription	NHEK	skin
36	chr6:74442200-74445600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:74442200-74455800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:74442200-74473400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr6:74442400-74493400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr6:74442600-74445200	Genic enhancers	NHDF-Ad	bronchial
41	chr6:74442800-74443400	Enhancers	Rectal Smooth Muscle	rectum
42	chr6:74442800-74444800	Enhancers	Fetal Heart	heart
43	chr6:74442800-74448000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:74443000-74443400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:74443000-74443400	Enhancers	GM12878-XiMat	blood
46	chr6:74443000-74444000	Genic enhancers	Fetal Muscle Leg	muscle
47	chr6:74443000-74451400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:74443200-74443400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:74443200-74443400	Enhancers	Left Ventricle	heart
50	chr6:74443200-74444000	Strong transcription	Fetal Stomach	stomach

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