Variant report

Variant	rs10129766
Chromosome Location	chr14:34916957-34916958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:34916477..34918370-chr14:34929972..34931910,2	K562	blood:
2	chr14:34915477..34917305-chr14:34930004..34932329,2	MCF-7	breast:
3	chr14:34916053..34917977-chr14:34929322..34931910,2	K562	blood:
4	chr14:34914094..34917088-chr14:34917252..34921596,5	K562	blood:
5	chr14:34914176..34917088-chr14:34919017..34921361,2	K562	blood:

Variant related genes	Relation type
ENSG00000165389	Chromatin interaction
ENSG00000129521	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10129553	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10130622	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10130753	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10134725	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10136474	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10143373	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10145547	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10146788	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10147869	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11156844	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11156845	0.91[EUR][1000 genomes]
rs17102535	1.00[CEU][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2383595	0.80[EUR][1000 genomes]
rs28464896	0.91[EUR][1000 genomes]
rs28493719	0.99[AFR][1000 genomes]
rs28503702	0.91[EUR][1000 genomes]
rs28505950	0.91[EUR][1000 genomes]
rs28570067	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28711373	0.91[EUR][1000 genomes]
rs28716315	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28825399	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61552888	0.91[EUR][1000 genomes]
rs7140844	0.94[EUR][1000 genomes]
rs7148816	0.91[EUR][1000 genomes]
rs7152442	0.88[EUR][1000 genomes]
rs7152899	0.91[EUR][1000 genomes]
rs7158740	0.85[EUR][1000 genomes]
rs8005278	0.97[EUR][1000 genomes]
rs8006226	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8009289	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1051104	chr14:34592378-35007083	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv949738	chr14:34616331-34990688	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv564192	chr14:34725233-34996507	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv564193	chr14:34728127-35000188	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	13 gene(s)	inside rSNPs	diseases
6	nsv528989	chr14:34744426-34998705	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats 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	13 gene(s)	inside rSNPs	diseases
7	nsv1054949	chr14:34834260-34992049	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv542025	chr14:34834260-34992049	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv1050218	chr14:34851521-34969433	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv1048369	chr14:34886956-34974774	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv901600	chr14:34895977-35010041	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34896400-34922400	Weak transcription	Left Ventricle	heart
2	chr14:34900800-34919000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:34901800-34929400	Weak transcription	K562	blood
4	chr14:34903200-34919200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:34904600-34924800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:34904800-34923400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:34905000-34917600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:34905400-34917400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:34906000-34922400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr14:34906600-34919800	Weak transcription	HSMM	muscle
11	chr14:34906800-34917400	Weak transcription	HMEC	breast
12	chr14:34906800-34918800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:34906800-34922400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:34906800-34923400	Weak transcription	NHLF	lung
15	chr14:34906800-34928800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:34906800-34928800	Weak transcription	NH-A	brain
17	chr14:34906800-34930200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:34907000-34918400	Weak transcription	Hela-S3	cervix
19	chr14:34907000-34919200	Weak transcription	NHDF-Ad	bronchial
20	chr14:34907000-34919800	Weak transcription	HUVEC	blood vessel
21	chr14:34907000-34923600	Weak transcription	Liver	Liver
22	chr14:34907200-34919400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr14:34907200-34919800	Weak transcription	Gastric	stomach
24	chr14:34907200-34922000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr14:34907200-34930000	Weak transcription	Primary B cells from cord blood	blood
26	chr14:34907400-34919400	Weak transcription	Fetal Intestine Large	intestine
27	chr14:34907400-34922400	Weak transcription	Ovary	ovary
28	chr14:34907400-34929800	Weak transcription	Psoas Muscle	Psoas
29	chr14:34907400-34930000	Weak transcription	Small Intestine	intestine
30	chr14:34908000-34923400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:34909600-34917600	Weak transcription	Fetal Muscle Leg	muscle
32	chr14:34910000-34921200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr14:34910400-34924600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr14:34910600-34923400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr14:34911000-34919000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr14:34911800-34922400	Weak transcription	Lung	lung
37	chr14:34911800-34929200	Weak transcription	Colon Smooth Muscle	Colon
38	chr14:34912000-34930000	Weak transcription	Right Ventricle	heart
39	chr14:34912200-34917400	Weak transcription	GM12878-XiMat	blood
40	chr14:34912200-34922400	Weak transcription	HSMMtube	muscle
41	chr14:34913000-34924200	Weak transcription	Placenta	Placenta
42	chr14:34913000-34927000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:34913600-34918400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr14:34913600-34919000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr14:34913600-34920600	Weak transcription	Colonic Mucosa	Colon
46	chr14:34913800-34917400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:34913800-34927200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:34914000-34917800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr14:34914000-34921200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr14:34914200-34919000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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