Variant report

Variant	rs71407780
Chromosome Location	chr14:39637417-39637418
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:39636723..39639312-chr14:39766672..39768267,2	MCF-7	breast:
2	chr14:39631838..39633415-chr14:39636342..39639514,3	MCF-7	breast:
3	chr14:39635717..39639064-chr14:39734944..39738287,4	MCF-7	breast:
4	chr14:39636108..39642775-chr14:39734196..39739360,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150527	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000258941	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10130972	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10133797	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10136536	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10149120	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10151683	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12147991	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12437405	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12891258	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13379360	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17108846	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2737721	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2737729	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2753606	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28379470	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28485301	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2869	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28856917	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34816815	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35035794	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3759545	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4143954	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4902405	0.84[AMR][1000 genomes]
rs4902406	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4902418	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4902431	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4902435	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4902448	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58851254	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67248626	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7147194	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8006879	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9322994	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv1813567	chr14:39632114-39642840	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:39611000-39637600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:39611200-39638800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:39611400-39638000	Weak transcription	A549	lung
5	chr14:39612800-39637800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:39617600-39637800	Weak transcription	Psoas Muscle	Psoas
7	chr14:39621000-39638400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr14:39624400-39638000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:39626800-39637600	Weak transcription	Fetal Heart	heart
10	chr14:39626800-39637800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:39627000-39637600	Weak transcription	HSMMtube	muscle
12	chr14:39627000-39637800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:39627000-39637800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr14:39627000-39638800	Weak transcription	Gastric	stomach
15	chr14:39627200-39638600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr14:39628200-39637600	Weak transcription	NHDF-Ad	bronchial
17	chr14:39631600-39638600	Weak transcription	Esophagus	oesophagus
18	chr14:39631800-39637800	Weak transcription	Colonic Mucosa	Colon
19	chr14:39631800-39638600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:39632000-39637600	Weak transcription	Primary B cells from cord blood	blood
21	chr14:39632200-39637600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:39632200-39637600	Weak transcription	Brain Anterior Caudate	brain
23	chr14:39632200-39637600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr14:39632200-39637800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr14:39632200-39637800	Weak transcription	NH-A	brain
26	chr14:39632200-39638000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:39632200-39638600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:39632200-39638600	Weak transcription	Pancreas	Pancrea
29	chr14:39632400-39637800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr14:39632400-39638600	Weak transcription	Lung	lung
31	chr14:39632800-39637600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:39633000-39638000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr14:39633200-39637800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr14:39633400-39638200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr14:39633600-39637800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr14:39634200-39637800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:39634200-39638000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:39634200-39638600	Weak transcription	Left Ventricle	heart
39	chr14:39634200-39638800	Weak transcription	Spleen	Spleen
40	chr14:39635000-39637800	Weak transcription	Fetal Intestine Small	intestine
41	chr14:39635000-39638000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:39635000-39638000	Weak transcription	Right Ventricle	heart
43	chr14:39635000-39638800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:39635200-39638200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr14:39635400-39637800	Enhancers	Dnd41	blood
46	chr14:39635400-39638000	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr14:39635400-39638800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:39635600-39637800	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr14:39635600-39638800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr14:39635800-39637800	Weak transcription	Thymus	Thymus

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