Variant report

Variant	rs12884695
Chromosome Location	chr14:34801192-34801193
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:34800554..34803623-chr14:34808126..34810131,3	K562	blood:
2	chr14:34800581..34801486-chr14:34967721..34968650,2	K562	blood:
3	chr14:34799600..34803505-chr14:35015683..35020657,6	K562	blood:
4	chr14:34799049..34803588-chr14:34929796..34932817,6	MCF-7	breast:
5	chr14:34801106..34802609-chr14:34842166..34844322,2	MCF-7	breast:
6	chr14:34800908..34801526-chr14:34966566..34967258,2	MCF-7	breast:
7	chr14:34799548..34803609-chr14:34964477..34969425,6	MCF-7	breast:
8	chr14:34800596..34801300-chr14:34965892..34967188,3	MCF-7	breast:
9	chr14:34799146..34802383-chr14:35022565..35025550,6	K562	blood:
10	chr14:34801000..34803505-chr14:35018421..35020509,2	K562	blood:
11	chr14:34800539..34802093-chr14:34803618..34805977,2	K562	blood:
12	chr14:34800896..34801407-chr14:34828851..34829746,2	K562	blood:
13	chr14:34800512..34802884-chr14:34930105..34932182,2	K562	blood:
14	chr14:34800052..34803596-chr14:35017115..35019908,4	MCF-7	breast:
15	chr14:34799658..34804397-chr14:34825720..34832179,6	MCF-7	breast:
16	chr14:34800393..34801534-chr14:34967736..34968695,6	MCF-7	breast:
17	chr14:34800025..34801871-chr14:35015919..35018818,2	MCF-7	breast:
18	chr14:34796387..34803256-chr14:34929329..34933926,13	MCF-7	breast:
19	chr14:34800459..34801447-chr14:34834475..34835043,2	MCF-7	breast:
20	chr14:34800941..34803201-chr14:34806783..34809053,3	MCF-7	breast:
21	chr14:34800085..34801493-chr14:34967404..34968713,17	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000206596	Chromatin interaction
ENSG00000129521	Chromatin interaction
ENSG00000165389	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10872884	0.89[ASN][1000 genomes]
rs12437371	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883249	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883392	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12885513	0.92[ASN][1000 genomes]
rs12891739	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12892023	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17102437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17442995	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2383584	1.00[CHB][hapmap]
rs35058546	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4981231	0.92[ASN][1000 genomes]
rs66824922	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7153394	0.92[ASN][1000 genomes]
rs8009965	0.83[ASW][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs944127	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv34180	chr14:34480514-34838295	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	esv2754221	chr14:34783048-34838295	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv901599	chr14:34792079-34828738	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv2761577	chr14:34792079-34839752	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34794000-34801200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:34800200-34801200	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr14:34800200-34801600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:34800400-34801200	Enhancers	Colon Smooth Muscle	Colon
5	chr14:34800400-34801400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:34800600-34801200	Enhancers	Brain Substantia Nigra	brain
7	chr14:34800600-34801200	Enhancers	Small Intestine	intestine
8	chr14:34800600-34801200	Enhancers	NHEK	skin
9	chr14:34800600-34802000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr14:34800600-34802000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:34800600-34802000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:34800800-34801400	Enhancers	Adipose Nuclei	Adipose
13	chr14:34800800-34801600	Enhancers	Primary B cells from peripheral blood	blood
14	chr14:34800800-34801600	Enhancers	HMEC	breast
15	chr14:34800800-34802200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr14:34800800-34802400	Enhancers	Liver	Liver
17	chr14:34801000-34801200	Enhancers	Primary B cells from cord blood	blood
18	chr14:34801000-34801200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:34801000-34801400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:34801000-34801400	Enhancers	Gastric	stomach
21	chr14:34801000-34801400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr14:34801000-34801400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr14:34801000-34801600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:34801000-34801600	Enhancers	Fetal Intestine Large	intestine
25	chr14:34801000-34801600	Enhancers	Fetal Thymus	thymus
26	chr14:34801000-34801600	Enhancers	Pancreas	Pancrea
27	chr14:34801000-34801600	Enhancers	NHDF-Ad	bronchial
28	chr14:34801000-34801800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr14:34801000-34801800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:34801000-34801800	Enhancers	Stomach Mucosa	stomach
31	chr14:34801000-34802000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:34801000-34802000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:34801000-34802000	Enhancers	Fetal Muscle Leg	muscle
34	chr14:34801000-34802000	Flanking Active TSS	A549	lung
35	chr14:34801000-34802000	Flanking Active TSS	Hela-S3	cervix
36	chr14:34801000-34802000	Flanking Bivalent TSS/Enh	HepG2	liver
37	chr14:34801000-34802000	Enhancers	K562	blood
38	chr14:34801000-34802200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr14:34801000-34802200	Flanking Active TSS	GM12878-XiMat	blood
40	chr14:34801000-34802400	Enhancers	Fetal Muscle Trunk	muscle
41	chr14:34801000-34802400	Enhancers	Placenta	Placenta

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