Variant report

Variant	rs7140551
Chromosome Location	chr14:31436914-31436915
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr14:31435533-31437063	HepG2	liver:	n/a	n/a
2	FOXA1	chr14:31436410-31436965	HepG2	liver:	n/a	n/a
3	FOXA2	chr14:31436344-31436925	A549	lung:	n/a	n/a
4	FOXA1	chr14:31436456-31436936	HepG2	liver:	n/a	n/a
5	FOXA2	chr14:31436499-31436914	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31428811..31431049-chr14:31434848..31436931,2	MCF-7	breast:

Variant related genes	Relation type
STRN3	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10459469	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11623403	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625390	0.83[AMR][1000 genomes]
rs11625978	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11627379	0.83[AMR][1000 genomes]
rs17097608	0.83[AMR][1000 genomes]
rs17097614	0.83[AMR][1000 genomes]
rs1977130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281563	0.80[AMR][1000 genomes]
rs2295129	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2378815	0.83[AMR][1000 genomes]
rs3784158	0.83[AMR][1000 genomes]
rs55708493	0.83[AMR][1000 genomes]
rs55843943	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56136496	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57706775	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58307523	0.84[EUR][1000 genomes]
rs60862458	0.83[AMR][1000 genomes]
rs61976773	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61976775	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61976776	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61976779	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61976796	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61976799	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6571374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67898509	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150316	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7150699	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72668381	0.83[AMR][1000 genomes]
rs72670303	0.83[AMR][1000 genomes]
rs8008526	0.83[AMR][1000 genomes]
rs8008780	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9671318	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS 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	50 gene(s)	inside rSNPs	diseases
3	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1231	chr14:31424602-31444721	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
5	esv3429977	chr14:31435166-31441360	Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31378000-31439000	Weak transcription	Psoas Muscle	Psoas
2	chr14:31415000-31437200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:31420200-31464400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr14:31425600-31437000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr14:31425600-31442800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:31425600-31443000	Weak transcription	HUVEC	blood vessel
7	chr14:31433000-31437200	ZNF genes & repeats	Fetal Stomach	stomach
8	chr14:31433200-31437200	ZNF genes & repeats	Fetal Muscle Leg	muscle
9	chr14:31433200-31437400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:31433200-31437400	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr14:31433600-31437000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
12	chr14:31434400-31437200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
13	chr14:31434600-31439200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr14:31435200-31437200	ZNF genes & repeats	Dnd41	blood
15	chr14:31435200-31437400	ZNF genes & repeats	GM12878-XiMat	blood
16	chr14:31435400-31437200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:31435400-31437400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:31435600-31437200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:31435800-31437400	Enhancers	K562	blood
20	chr14:31435800-31442000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:31436000-31439000	Weak transcription	Colon Smooth Muscle	Colon
22	chr14:31436000-31439600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr14:31436000-31441800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:31436000-31442200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr14:31436000-31442200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr14:31436000-31457400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr14:31436200-31437000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:31436200-31437000	Weak transcription	Osteobl	bone
29	chr14:31436200-31437400	Flanking Active TSS	HepG2	liver
30	chr14:31436200-31438800	Weak transcription	Primary B cells from cord blood	blood
31	chr14:31436200-31439000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr14:31436200-31439000	Weak transcription	Right Ventricle	heart
33	chr14:31436200-31439200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr14:31436200-31439200	Weak transcription	Brain Substantia Nigra	brain
35	chr14:31436200-31439400	Weak transcription	Brain Hippocampus Middle	brain
36	chr14:31436200-31439600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr14:31436200-31439600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:31436200-31439800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:31436200-31439800	Weak transcription	Brain Angular Gyrus	brain
40	chr14:31436200-31440000	Weak transcription	Left Ventricle	heart
41	chr14:31436200-31441400	Weak transcription	Aorta	Aorta
42	chr14:31436200-31441800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:31436200-31441800	Weak transcription	Ovary	ovary
44	chr14:31436200-31442200	Weak transcription	Pancreas	Pancrea
45	chr14:31436200-31442200	Weak transcription	Hela-S3	cervix
46	chr14:31436200-31443000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr14:31436200-31443000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:31436200-31443000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:31436200-31447000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr14:31436200-31449200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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