Variant report

Variant	rs12895117
Chromosome Location	chr14:68063971-68063972
allele	A/G
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	CTCF	chr14:68063969-68064024	GM13976	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68057944..68060772-chr14:68062849..68065164,2	K562	blood:
2	chr14:68036651..68038481-chr14:68063645..68066498,2	MCF-7	breast:

Variant related genes	Relation type
PIGH	TF binding region
ENSG00000100564	Chromatin interaction
ENSG00000054690	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12893796	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4899210	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8004030	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8007199	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers 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	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers 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	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS 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	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68002000-68065800	Weak transcription	Fetal Brain Male	brain
2	chr14:68044600-68065800	Weak transcription	Fetal Kidney	kidney
3	chr14:68047400-68065800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:68048000-68065600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:68048000-68066200	Weak transcription	Colonic Mucosa	Colon
6	chr14:68049200-68064800	Weak transcription	Stomach Mucosa	stomach
7	chr14:68051000-68065600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:68051000-68066000	Weak transcription	Fetal Heart	heart
9	chr14:68051800-68064600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr14:68053200-68066000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:68053400-68065800	Weak transcription	Osteobl	bone
12	chr14:68053600-68065800	Weak transcription	NH-A	brain
13	chr14:68053600-68066000	Weak transcription	HUVEC	blood vessel
14	chr14:68054400-68065800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:68054800-68066000	Weak transcription	HSMM	muscle
16	chr14:68054800-68066000	Weak transcription	NHLF	lung
17	chr14:68055200-68065600	Weak transcription	HSMMtube	muscle
18	chr14:68055200-68065800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:68055600-68066200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:68055600-68066200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:68055600-68066200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:68055800-68065600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:68056400-68064800	Weak transcription	GM12878-XiMat	blood
24	chr14:68056600-68065600	Weak transcription	NHDF-Ad	bronchial
25	chr14:68056800-68065000	Weak transcription	HMEC	breast
26	chr14:68056800-68065800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:68057000-68065000	Weak transcription	NHEK	skin
28	chr14:68057000-68065600	Weak transcription	Hela-S3	cervix
29	chr14:68057400-68065600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr14:68057400-68065800	Weak transcription	Brain Anterior Caudate	brain
31	chr14:68057600-68064800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr14:68057600-68065600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:68057600-68065800	Weak transcription	Colon Smooth Muscle	Colon
34	chr14:68057600-68066000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr14:68057600-68066200	Weak transcription	Esophagus	oesophagus
36	chr14:68057600-68066400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:68058600-68065600	Weak transcription	Right Ventricle	heart
38	chr14:68058600-68066000	Weak transcription	Psoas Muscle	Psoas
39	chr14:68059200-68065800	Weak transcription	Brain Angular Gyrus	brain
40	chr14:68059200-68065800	Weak transcription	Brain Germinal Matrix	brain
41	chr14:68059200-68066000	Weak transcription	Fetal Muscle Leg	muscle
42	chr14:68059200-68066200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:68059200-68066200	Weak transcription	Gastric	stomach
44	chr14:68059200-68066400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:68059400-68064600	Weak transcription	Small Intestine	intestine
46	chr14:68059400-68065000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:68059400-68065800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:68059400-68065800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr14:68059400-68065800	Weak transcription	Brain Substantia Nigra	brain
50	chr14:68059400-68066200	Weak transcription	Pancreas	Pancrea

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