Variant report

Variant	rs12100473
Chromosome Location	chr14:105795991-105795992
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105795359..105796925-chr14:105800577..105802391,2	K562	blood:
2	chr14:105795771..105798760-chr14:105803162..105807544,4	K562	blood:
3	chr14:105767065..105769583-chr14:105794063..105797699,3	MCF-7	breast:
4	chr14:105778847..105781477-chr14:105795288..105797477,2	K562	blood:
5	chr14:105789772..105792476-chr14:105795774..105798149,3	K562	blood:
6	chr14:105778847..105781477-chr14:105795288..105797491,3	K562	blood:
7	chr14:105794390..105796744-chr14:105813541..105815456,2	MCF-7	breast:
8	chr14:105795550..105797452-chr14:105807856..105809392,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185024	Chromatin interaction
ENSG00000179364	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10139839	1.00[CHD][hapmap]
rs11620688	1.00[CHD][hapmap]
rs2816644	1.00[CHD][hapmap]
rs28725385	1.00[CHD][hapmap]
rs35590487	1.00[CHD][hapmap]
rs4983339	1.00[CHD][hapmap]
rs4983423	1.00[CHD][hapmap]
rs7494350	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
4	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
8	esv2758369	chr14:105513346-105803170	Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	esv2760014	chr14:105513346-105803170	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	nsv902441	chr14:105602619-105803170	Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv902442	chr14:105602619-105803170	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	esv1817919	chr14:105605199-105803170	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
14	nsv902466	chr14:105704465-105803170	Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	esv29986	chr14:105707292-105803170	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv832887	chr14:105717339-105803170	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
17	nsv832888	chr14:105717339-105803170	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105782600-105800000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:105782600-105807400	Weak transcription	Primary B cells from cord blood	blood
3	chr14:105783000-105796000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr14:105783000-105796600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr14:105783600-105796000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr14:105783600-105796000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr14:105783600-105796600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:105783600-105799800	Weak transcription	Stomach Mucosa	stomach
9	chr14:105783600-105802800	Weak transcription	Fetal Intestine Large	intestine
10	chr14:105784000-105796800	Weak transcription	NHEK	skin
11	chr14:105784000-105821800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr14:105784200-105802400	Weak transcription	Dnd41	blood
13	chr14:105784400-105796200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:105784400-105796400	Weak transcription	HMEC	breast
15	chr14:105784400-105796800	Weak transcription	Aorta	Aorta
16	chr14:105784400-105796800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr14:105784400-105799400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr14:105784600-105797000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:105789200-105796400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr14:105789200-105797000	Enhancers	Psoas Muscle	Psoas
21	chr14:105789200-105797200	Enhancers	Right Ventricle	heart
22	chr14:105789200-105797400	Enhancers	Left Ventricle	heart
23	chr14:105789200-105805600	Enhancers	Brain Anterior Caudate	brain
24	chr14:105789400-105797400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:105789600-105797200	Enhancers	Right Atrium	heart
26	chr14:105789800-105796600	Weak transcription	Fetal Thymus	thymus
27	chr14:105790000-105796600	Weak transcription	K562	blood
28	chr14:105790000-105797200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:105790000-105797400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:105790000-105802200	Enhancers	Brain Hippocampus Middle	brain
31	chr14:105790200-105805400	Enhancers	Brain Substantia Nigra	brain
32	chr14:105790400-105796800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:105790600-105796800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:105791000-105796800	Weak transcription	NHLF	lung
35	chr14:105791000-105803400	Enhancers	Fetal Muscle Leg	muscle
36	chr14:105791200-105796600	Weak transcription	Colonic Mucosa	Colon
37	chr14:105791200-105796600	Weak transcription	NHDF-Ad	bronchial
38	chr14:105791200-105796800	Weak transcription	NH-A	brain
39	chr14:105791200-105797400	Enhancers	Brain Cingulate Gyrus	brain
40	chr14:105791400-105797400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr14:105791400-105804200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr14:105791600-105798800	Strong transcription	Fetal Intestine Small	intestine
43	chr14:105791800-105803600	Weak transcription	Colon Smooth Muscle	Colon
44	chr14:105792200-105796000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr14:105792200-105797400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr14:105792400-105804200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:105792600-105796800	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr14:105792600-105798000	Weak transcription	HepG2	liver
49	chr14:105792800-105796800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr14:105792800-105798800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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