Variant report

Variant	rs11845628
Chromosome Location	chr14:21925863-21925864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21924252..21925871-chr14:21972693..21974391,2	MCF-7	breast:
2	chr14:21851036..21853977-chr14:21924005..21926243,2	K562	blood:
3	chr14:21896024..21898915-chr14:21922681..21926768,3	MCF-7	breast:
4	chr14:21903062..21910356-chr14:21920914..21926084,11	K562	blood:
5	chr14:21903199..21908176-chr14:21922150..21927422,17	MCF-7	breast:
6	chr14:21924893..21927310-chr14:22025908..22027691,2	MCF-7	breast:
7	chr14:21924214..21926252-chr14:21977009..21978995,2	K562	blood:
8	chr14:21924995..21926631-chr14:21995228..21997322,2	K562	blood:
9	chr14:21895886..21898457-chr14:21923417..21926008,3	MCF-7	breast:
10	chr14:21924719..21926379-chr14:21926397..21928369,2	MCF-7	breast:
11	chr14:21850281..21853606-chr14:21922401..21926243,8	K562	blood:
12	chr14:21924729..21926347-chr14:21926408..21928201,2	K562	blood:
13	chr14:21924456..21927951-chr14:21928618..21932822,6	K562	blood:
14	chr14:21922608..21930261-chr14:21941288..21947915,21	MCF-7	breast:
15	chr14:21923226..21926054-chr6:27860528..27862245,2	MCF-7	breast:
16	chr14:21899827..21901891-chr14:21923917..21926462,2	MCF-7	breast:
17	chr14:21921735..21926252-chr14:21977495..21980798,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263621	Chromatin interaction
ENSG00000100888	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000165819	Chromatin interaction
ENSG00000129472	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000092203	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000260830	Chromatin interaction
ENSG00000092201	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10145520	0.84[AFR][1000 genomes]
rs1045811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1045812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12880071	0.82[AMR][1000 genomes]
rs12884313	0.82[AMR][1000 genomes]
rs17106448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33919729	0.82[AMR][1000 genomes]
rs34765612	0.82[AMR][1000 genomes]
rs35446048	0.81[AMR][1000 genomes]
rs35856604	0.84[AMR][1000 genomes]
rs3762161	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3790070	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs4981372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982449	0.82[AMR][1000 genomes]
rs55886165	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56144428	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56267245	0.83[AFR][1000 genomes]
rs56310285	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57098252	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59617955	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59852035	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61973205	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61973214	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67492181	0.82[AMR][1000 genomes]
rs73581403	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73581408	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73581411	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73581416	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73581419	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats 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	92 gene(s)	inside rSNPs	diseases
4	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1054013	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv541991	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv530011	chr14:21876973-21985341	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats 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	28 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	chr14:21924800-21928400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:21924800-21928400	Weak transcription	Spleen	Spleen
3	chr14:21924800-21928800	Weak transcription	Gastric	stomach
4	chr14:21924800-21929200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:21924800-21929200	Weak transcription	Esophagus	oesophagus
6	chr14:21924800-21929200	Weak transcription	Lung	lung
7	chr14:21924800-21929200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:21924800-21944600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:21925000-21926400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:21925000-21926800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:21925000-21926800	Weak transcription	HSMM	muscle
12	chr14:21925000-21927000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:21925000-21927000	Weak transcription	NH-A	brain
14	chr14:21925000-21927200	Weak transcription	Fetal Thymus	thymus
15	chr14:21925000-21927400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:21925000-21927400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:21925000-21927400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr14:21925000-21927800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:21925000-21927800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:21925000-21927800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr14:21925000-21927800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr14:21925000-21928000	Weak transcription	Fetal Muscle Leg	muscle
23	chr14:21925000-21928000	Weak transcription	Left Ventricle	heart
24	chr14:21925000-21928000	Weak transcription	HSMMtube	muscle
25	chr14:21925000-21928200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:21925000-21928200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:21925000-21928400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:21925000-21928800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:21925000-21928800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr14:21925000-21928800	Weak transcription	Aorta	Aorta
31	chr14:21925000-21928800	Weak transcription	NHDF-Ad	bronchial
32	chr14:21925000-21929000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr14:21925000-21929000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:21925000-21929000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr14:21925000-21929000	Weak transcription	Right Ventricle	heart
36	chr14:21925000-21929000	Weak transcription	Osteobl	bone
37	chr14:21925000-21929200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:21925000-21929200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr14:21925000-21929200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:21925000-21929200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr14:21925000-21929200	Weak transcription	Brain Substantia Nigra	brain
42	chr14:21925000-21929200	Weak transcription	Fetal Brain Female	brain
43	chr14:21925000-21929200	Weak transcription	Fetal Lung	lung
44	chr14:21925000-21929200	Weak transcription	Ovary	ovary
45	chr14:21925000-21929200	Weak transcription	Pancreas	Pancrea
46	chr14:21925000-21929200	Weak transcription	GM12878-XiMat	blood
47	chr14:21925000-21929200	Weak transcription	NHLF	lung
48	chr14:21925000-21929400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr14:21925000-21929400	Weak transcription	Brain Germinal Matrix	brain
50	chr14:21925000-21929800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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