Variant report

Variant	rs4982173
Chromosome Location	chr14:34842480-34842481
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:34841266..34842852-chr14:34928524..34930795,2	MCF-7	breast:
2	chr14:34801106..34802609-chr14:34842166..34844322,2	MCF-7	breast:
3	chr14:34799303..34801132-chr14:34842337..34843937,2	MCF-7	breast:
4	chr14:34830868..34842924-chr14:34928180..34935370,25	MCF-7	breast:
5	chr14:34836773..34839966-chr14:34841911..34844333,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165389	Chromatin interaction
ENSG00000129521	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10131339	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10137076	1.00[CEU][hapmap]
rs10147550	1.00[CEU][hapmap]
rs10147960	0.87[AMR][1000 genomes]
rs4982172	1.00[CEU][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8004728	1.00[CEU][hapmap]

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	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1051104	chr14:34592378-35007083	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv949738	chr14:34616331-34990688	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv564192	chr14:34725233-34996507	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv564193	chr14:34728127-35000188	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	13 gene(s)	inside rSNPs	diseases
6	nsv528989	chr14:34744426-34998705	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1054949	chr14:34834260-34992049	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv542025	chr14:34834260-34992049	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking 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	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34835800-34843200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr14:34838400-34844000	Weak transcription	Pancreas	Pancrea
3	chr14:34838600-34844000	Weak transcription	Colonic Mucosa	Colon
4	chr14:34838800-34844000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr14:34838800-34844000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr14:34839400-34844000	Weak transcription	Stomach Mucosa	stomach
7	chr14:34839400-34846000	Weak transcription	Fetal Lung	lung
8	chr14:34839800-34848600	Weak transcription	Lung	lung
9	chr14:34840200-34844400	Weak transcription	Hela-S3	cervix
10	chr14:34841000-34846200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr14:34841200-34845200	Enhancers	Fetal Intestine Small	intestine
12	chr14:34841400-34843000	Enhancers	Fetal Intestine Large	intestine
13	chr14:34841600-34845200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:34841600-34850200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr14:34841800-34842600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr14:34841800-34842600	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr14:34841800-34842600	Enhancers	HMEC	breast
18	chr14:34841800-34843000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:34841800-34843000	Enhancers	NHEK	skin
20	chr14:34841800-34846000	Enhancers	Placenta	Placenta
21	chr14:34842000-34842600	Bivalent Enhancer	HepG2	liver
22	chr14:34842200-34842600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:34842200-34844400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:34842400-34843000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr14:34842400-34845600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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