Variant report

Variant	rs12100469
Chromosome Location	chr14:31658666-31658667
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31657952..31660253-chr14:31675685..31678045,2	MCF-7	breast:
2	chr14:31654015..31656848-chr14:31657830..31660066,3	K562	blood:
3	chr14:31654015..31655608-chr14:31658189..31660066,2	K562	blood:
4	chr14:31657985..31659593-chr14:31664052..31666042,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11621299	1.00[YRI][hapmap]
rs11850963	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs12436102	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35852948	0.92[AMR][1000 genomes];0.94[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	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1043033	chr14:31538984-31686696	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31629800-31664800	Weak transcription	Right Atrium	heart
2	chr14:31635800-31663400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:31637200-31675000	Weak transcription	Gastric	stomach
4	chr14:31637800-31662200	Strong transcription	Fetal Intestine Small	intestine
5	chr14:31638800-31672000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:31639600-31663400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:31640800-31674000	Weak transcription	Fetal Brain Male	brain
8	chr14:31643000-31664800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr14:31643000-31664800	Weak transcription	Psoas Muscle	Psoas
10	chr14:31643200-31662200	Weak transcription	Fetal Kidney	kidney
11	chr14:31643200-31663800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:31643200-31664000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr14:31643200-31664000	Weak transcription	Fetal Heart	heart
14	chr14:31643200-31675000	Weak transcription	Esophagus	oesophagus
15	chr14:31643400-31675000	Weak transcription	Spleen	Spleen
16	chr14:31643600-31659800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:31644400-31663200	Weak transcription	NH-A	brain
18	chr14:31644600-31659200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:31644800-31664200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr14:31644800-31664400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr14:31644800-31675000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:31644800-31675000	Weak transcription	Pancreas	Pancrea
23	chr14:31645000-31659000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:31645000-31659800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:31645000-31663400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:31645600-31659200	Weak transcription	HSMM	muscle
27	chr14:31645600-31659800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:31645600-31675000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr14:31645800-31659000	Weak transcription	NHLF	lung
30	chr14:31646600-31674400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:31647400-31659000	Weak transcription	NHEK	skin
32	chr14:31647400-31659200	Weak transcription	Colon Smooth Muscle	Colon
33	chr14:31647400-31664000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr14:31647400-31664200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr14:31647400-31664400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr14:31647400-31667200	Weak transcription	Brain Substantia Nigra	brain
37	chr14:31647600-31659000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr14:31647600-31659200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr14:31647600-31659400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr14:31647600-31665200	Weak transcription	K562	blood
41	chr14:31647800-31658800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr14:31647800-31659200	Weak transcription	NHDF-Ad	bronchial
43	chr14:31647800-31662000	Weak transcription	HUVEC	blood vessel
44	chr14:31648000-31659000	Weak transcription	Adipose Nuclei	Adipose
45	chr14:31648000-31674800	Weak transcription	Thymus	Thymus
46	chr14:31648200-31659000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr14:31648200-31660000	Weak transcription	HSMMtube	muscle
48	chr14:31648200-31663800	Weak transcription	Brain Hippocampus Middle	brain
49	chr14:31648200-31664400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr14:31648200-31666800	Weak transcription	Brain Anterior Caudate	brain

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