Variant report

Variant	rs72717364
Chromosome Location	chr14:67717518-67717519
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67715902..67717588-chr14:67725188..67728083,2	K562	blood:
2	chr14:67707341..67709736-chr14:67717004..67719611,3	K562	blood:
3	chr14:67717311..67719778-chr14:67825828..67828686,2	K562	blood:
4	chr14:67712988..67715259-chr14:67715330..67718013,2	K562	blood:
5	chr14:67705323..67710204-chr14:67712445..67718210,9	MCF-7	breast:
6	chr14:67707341..67711028-chr14:67715003..67718504,4	K562	blood:

Variant related genes	Relation type
ENSG00000134001	Chromatin interaction
ENSG00000072415	Chromatin interaction
ENSG00000100554	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs72715304	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72715306	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72715344	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72717350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72717351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72717353	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72717361	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72717363	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72717368	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717369	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717371	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902058	chr14:67310195-67760538	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv902059	chr14:67352226-67760538	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv902060	chr14:67417083-67760538	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1040257	chr14:67634585-67762806	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67708800-67718000	Weak transcription	Pancreas	Pancrea
2	chr14:67708800-67730600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:67709000-67740600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:67709200-67718000	Weak transcription	Right Ventricle	heart
5	chr14:67709400-67730000	Weak transcription	Fetal Stomach	stomach
6	chr14:67709600-67718000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:67709600-67719200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr14:67709600-67720200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr14:67709800-67718000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:67709800-67718200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:67709800-67718200	Weak transcription	Brain Angular Gyrus	brain
12	chr14:67709800-67719200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr14:67709800-67733600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr14:67709800-67737800	Weak transcription	Primary T cells from cord blood	blood
15	chr14:67709800-67746000	Weak transcription	Primary B cells from cord blood	blood
16	chr14:67710000-67718000	Weak transcription	Fetal Intestine Large	intestine
17	chr14:67710200-67728400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:67710600-67735000	Weak transcription	Placenta	Placenta
19	chr14:67710800-67718000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:67712200-67718200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:67712200-67734400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:67713400-67718000	Weak transcription	Right Atrium	heart
23	chr14:67713400-67719200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr14:67713600-67718000	Weak transcription	Left Ventricle	heart
25	chr14:67713600-67719000	Weak transcription	Psoas Muscle	Psoas
26	chr14:67714400-67718000	Weak transcription	Fetal Intestine Small	intestine
27	chr14:67714400-67718400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:67714400-67719800	Weak transcription	NHDF-Ad	bronchial
29	chr14:67714400-67735000	Weak transcription	Fetal Muscle Leg	muscle
30	chr14:67714600-67718000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr14:67714600-67718000	Weak transcription	Small Intestine	intestine
32	chr14:67714600-67718200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:67714600-67718600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr14:67714600-67718600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:67714600-67721200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr14:67714600-67723600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr14:67714800-67717600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:67714800-67718600	Weak transcription	HSMMtube	muscle
39	chr14:67714800-67729200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr14:67714800-67729800	Weak transcription	HUVEC	blood vessel
41	chr14:67715000-67717800	Weak transcription	Hela-S3	cervix
42	chr14:67715000-67717800	Weak transcription	HMEC	breast
43	chr14:67715000-67718000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:67715000-67718000	Weak transcription	Osteobl	bone
45	chr14:67715000-67718200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr14:67715000-67718200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:67715000-67718200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:67715000-67718200	Weak transcription	A549	lung
49	chr14:67715000-67730200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr14:67715200-67718000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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