Variant report

Variant	rs11851069
Chromosome Location	chr14:45639536-45639537
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11845142	0.82[YRI][hapmap]
rs73340647	0.82[AFR][1000 genomes]
rs73340650	0.82[AFR][1000 genomes]
rs8008662	0.80[YRI][hapmap];0.89[AFR][1000 genomes]
rs8010301	0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
6	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	32 gene(s)	inside rSNPs	diseases
9	esv1800510	chr14:45572528-45650813	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv530814	chr14:45604432-46198418	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv901844	chr14:45606287-46063731	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv1044445	chr14:45606779-45807171	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
13	nsv901845	chr14:45619217-45772910	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
14	esv1795403	chr14:45622265-45650813	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv1045297	chr14:45631260-45755992	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45606000-45679600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:45606400-45641200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:45607000-45660000	Weak transcription	Ovary	ovary
4	chr14:45607400-45650200	Weak transcription	NH-A	brain
5	chr14:45607400-45656000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:45607400-45678400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:45608000-45683000	Weak transcription	K562	blood
8	chr14:45608400-45668400	Weak transcription	NHDF-Ad	bronchial
9	chr14:45610200-45667400	Weak transcription	HMEC	breast
10	chr14:45614400-45675000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr14:45614600-45639800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:45614800-45640600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:45614800-45666000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:45619000-45650800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:45623200-45647200	Weak transcription	Fetal Heart	heart
16	chr14:45629800-45680800	Weak transcription	HepG2	liver
17	chr14:45630800-45704400	Weak transcription	Fetal Brain Male	brain
18	chr14:45631000-45675000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr14:45631400-45642600	Weak transcription	Thymus	Thymus
20	chr14:45631800-45639800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:45631800-45711400	Weak transcription	Brain Hippocampus Middle	brain
22	chr14:45632600-45658000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr14:45632800-45707000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr14:45633200-45640000	Strong transcription	Fetal Thymus	thymus
25	chr14:45633800-45646600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:45633800-45648600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:45633800-45658200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr14:45633800-45721200	Weak transcription	Aorta	Aorta
29	chr14:45634400-45657600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:45635000-45645800	Weak transcription	Osteobl	bone
31	chr14:45635200-45654200	Weak transcription	GM12878-XiMat	blood
32	chr14:45635200-45678400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr14:45635200-45678800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr14:45635400-45658000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr14:45635600-45641200	Weak transcription	Right Ventricle	heart
36	chr14:45635600-45655400	Weak transcription	Primary T cells from cord blood	blood
37	chr14:45636000-45669800	Weak transcription	Fetal Stomach	stomach
38	chr14:45636000-45675400	Weak transcription	Fetal Intestine Small	intestine
39	chr14:45636400-45673800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr14:45636400-45675600	Weak transcription	Fetal Muscle Leg	muscle
41	chr14:45636600-45644800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:45636600-45645000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr14:45636600-45657000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:45636600-45667600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:45636600-45669800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr14:45636600-45675600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr14:45636600-45682800	Weak transcription	Fetal Lung	lung
48	chr14:45636800-45657800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr14:45636800-45658000	Weak transcription	Adipose Nuclei	Adipose
50	chr14:45636800-45658200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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