Variant report

Variant	rs2267749
Chromosome Location	chr14:78072371-78072372
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78069363..78073512-chr14:78081398..78084592,5	MCF-7	breast:
2	chr14:78072044..78075600-chr14:78081551..78084450,6	K562	blood:
3	chr14:78063987..78068208-chr14:78069326..78072935,4	MCF-7	breast:
4	chr14:78070489..78072668-chr14:78077080..78079522,2	MCF-7	breast:
5	chr14:78065290..78068119-chr14:78072066..78074474,3	K562	blood:
6	chr14:78071276..78074499-chr14:78074506..78077837,3	K562	blood:

Variant related genes	Relation type
ENSG00000100596	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10129280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10137398	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10139059	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10146161	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10873309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11626349	0.85[CHB][hapmap]
rs12887526	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13379058	0.80[ASN][1000 genomes]
rs176901	0.81[CHB][hapmap]
rs1861942	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2267746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2267747	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2267748	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2267750	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2267754	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2299921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2299922	0.81[CHB][hapmap]
rs2299923	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2299924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2299925	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2299927	0.81[CHB][hapmap]
rs2299928	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs4899660	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4899661	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4903614	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7157356	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8008258	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8021376	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8021660	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9944097	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1051554	chr14:78004196-78122980	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv976299	chr14:78072275-78074551	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78051600-78072600	Weak transcription	Psoas Muscle	Psoas
2	chr14:78055000-78081600	Weak transcription	Right Ventricle	heart
3	chr14:78056600-78072800	Weak transcription	Placenta	Placenta
4	chr14:78057600-78081400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:78062800-78075000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:78063200-78077800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:78063400-78081600	Weak transcription	Fetal Stomach	stomach
8	chr14:78063800-78074000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:78063800-78074200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:78065600-78081400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr14:78066000-78079600	Weak transcription	Dnd41	blood
12	chr14:78066600-78074200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:78066800-78078400	Weak transcription	NHLF	lung
14	chr14:78067000-78078200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:78067800-78075000	Enhancers	Stomach Mucosa	stomach
16	chr14:78068600-78073200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:78069000-78072800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:78069200-78081600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:78069600-78072800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr14:78069600-78072800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:78070000-78074200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:78070000-78075600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr14:78070200-78072400	Enhancers	A549	lung
24	chr14:78070200-78073400	Enhancers	Small Intestine	intestine
25	chr14:78070200-78074000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:78070200-78074400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:78070200-78081600	Weak transcription	Liver	Liver
28	chr14:78070400-78072400	Weak transcription	Pancreas	Pancrea
29	chr14:78070400-78074200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr14:78070400-78074200	Enhancers	Primary hematopoietic stem cells	blood
31	chr14:78070400-78074200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:78070400-78075000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr14:78070400-78075800	Weak transcription	Lung	lung
34	chr14:78070400-78078200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:78070400-78078400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr14:78070400-78079800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:78070400-78081400	Weak transcription	Fetal Muscle Leg	muscle
38	chr14:78070600-78072400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:78070600-78072400	Weak transcription	Gastric	stomach
40	chr14:78070600-78073600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr14:78070600-78074000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr14:78070600-78074200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:78070600-78074200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr14:78070600-78074200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:78070600-78074200	Weak transcription	Right Atrium	heart
46	chr14:78070600-78074400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:78070600-78076800	Weak transcription	HSMM	muscle
48	chr14:78070600-78077800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:78070600-78077800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:78070600-78078200	Weak transcription	NH-A	brain

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