Variant report

Variant	rs12050214
Chromosome Location	chr14:22026308-22026309
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21992613..21994991-chr14:22023971..22027172,3	MCF-7	breast:
2	chr14:21973675..21975896-chr14:22025670..22027377,2	K562	blood:
3	chr14:21965159..21967752-chr14:22024395..22027094,3	MCF-7	breast:
4	chr14:21924893..21927310-chr14:22025908..22027691,2	MCF-7	breast:
5	chr14:21966135..21967334-chr14:22024735..22026336,7	MCF-7	breast:
6	chr14:21967474..21971361-chr14:22024015..22027387,4	K562	blood:
7	chr14:21966429..21967420-chr14:22025503..22026403,9	K562	blood:
8	chr14:21992702..21995235-chr14:22025851..22027508,2	MCF-7	breast:
9	chr14:21977743..21979409-chr14:22025711..22027311,2	MCF-7	breast:
10	chr14:21920487..21922839-chr14:22025692..22028469,2	K562	blood:
11	chr14:21979431..21980947-chr14:22025608..22027226,2	K562	blood:
12	chr14:21965103..21966895-chr14:22024708..22027624,2	K562	blood:
13	chr14:21922916..21925515-chr14:22024387..22026988,2	K562	blood:
14	chr14:21978852..21980504-chr14:22026086..22028034,2	MCF-7	breast:
15	chr14:22025433..22026344-chr14:22109433..22110015,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165821	Chromatin interaction
ENSG00000100888	Chromatin interaction
ENSG00000165819	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12232177	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17792778	0.81[CHB][hapmap]
rs2319870	0.81[CHB][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4981373	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7148509	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[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	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1049871	chr14:21992049-22053477	Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22018800-22035200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:22024400-22027000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:22025000-22026400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:22025200-22026400	Enhancers	Pancreas	Pancrea
5	chr14:22025400-22026400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:22025400-22026400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:22025400-22026400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr14:22025400-22026800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:22025400-22027000	Enhancers	Placenta	Placenta
10	chr14:22025600-22026400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:22025600-22026400	Active TSS	Right Atrium	heart
12	chr14:22025800-22026400	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr14:22025800-22026400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:22025800-22026400	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr14:22025800-22026400	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr14:22025800-22026400	Active TSS	HepG2	liver
17	chr14:22025800-22026600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr14:22025800-22026600	Enhancers	Fetal Brain Male	brain
19	chr14:22025800-22026800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr14:22025800-22027200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr14:22026000-22026400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:22026000-22026400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:22026000-22026400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr14:22026000-22026400	Enhancers	Liver	Liver
25	chr14:22026000-22026400	Enhancers	Brain Cingulate Gyrus	brain
26	chr14:22026000-22026400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr14:22026000-22026400	Enhancers	Fetal Intestine Large	intestine
28	chr14:22026000-22026400	Enhancers	Fetal Intestine Small	intestine
29	chr14:22026000-22026400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr14:22026000-22026800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr14:22026000-22026800	Enhancers	Fetal Muscle Trunk	muscle
32	chr14:22026000-22026800	Enhancers	Fetal Muscle Leg	muscle
33	chr14:22026200-22026400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:22026200-22026400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr14:22026200-22026400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:22026200-22026400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:22026200-22026400	Active TSS	Muscle Satellite Cultured Cells	--
38	chr14:22026200-22026400	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr14:22026200-22026400	Enhancers	Fetal Stomach	stomach
40	chr14:22026200-22026400	Enhancers	Rectal Smooth Muscle	rectum
41	chr14:22026200-22026400	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr14:22026200-22026600	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr14:22026200-22026800	Enhancers	Adipose Nuclei	Adipose

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