Variant report

Variant	rs8017683
Chromosome Location	chr14:36778225-36778226
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:36777999..36779910-chr14:36780693..36782263,2	K562	blood:
2	chr14:36772767..36774449-chr14:36777469..36780447,2	K562	blood:
3	chr14:36777645..36780229-chr14:36786756..36790572,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151332	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10220683	1.00[EUR][1000 genomes]
rs28454088	1.00[EUR][1000 genomes]
rs59711763	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59804868	1.00[EUR][1000 genomes]
rs59960391	1.00[EUR][1000 genomes]
rs60975260	1.00[EUR][1000 genomes]
rs61535449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7142790	1.00[EUR][1000 genomes]
rs7148901	1.00[EUR][1000 genomes]
rs8004802	0.86[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8006305	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8006989	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	esv3429093	chr14:36674701-36827119	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3367425	chr14:36674721-36827089	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1042408	chr14:36693910-36810554	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv542043	chr14:36693910-36810554	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv2751271	chr14:36745649-36782949	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv534143	chr14:36747497-36787893	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv2752577	chr14:36768276-36805529	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1040487	chr14:36770813-36805621	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS 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	4 gene(s)	inside rSNPs	diseases
14	nsv832771	chr14:36771007-36964041	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36761000-36785000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:36762000-36778800	Weak transcription	Fetal Intestine Small	intestine
3	chr14:36764400-36784000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:36765000-36779400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:36765000-36781200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:36765200-36781400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:36765400-36781400	Strong transcription	Placenta	Placenta
8	chr14:36765400-36788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:36765600-36781000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:36765800-36780000	Weak transcription	K562	blood
11	chr14:36765800-36781000	Strong transcription	Duodenum Mucosa	Duodenum
12	chr14:36765800-36781200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:36765800-36782200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr14:36766000-36781000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr14:36766000-36781000	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr14:36766000-36781400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr14:36766000-36783400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr14:36766200-36781200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:36766200-36781200	Strong transcription	Fetal Thymus	thymus
20	chr14:36766200-36781200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr14:36766200-36781400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr14:36766200-36785400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:36766400-36779200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr14:36766600-36788000	Weak transcription	Fetal Heart	heart
25	chr14:36766800-36779600	Weak transcription	Right Ventricle	heart
26	chr14:36767000-36781000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:36767000-36781400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr14:36767200-36779400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:36767400-36789200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:36767400-36789200	Weak transcription	Spleen	Spleen
31	chr14:36767600-36779200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:36767600-36780200	Weak transcription	Psoas Muscle	Psoas
33	chr14:36767800-36779600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr14:36767800-36779600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:36768200-36780400	Weak transcription	NHEK	skin
36	chr14:36768400-36778800	Weak transcription	Colonic Mucosa	Colon
37	chr14:36769600-36781400	Strong transcription	Primary B cells from cord blood	blood
38	chr14:36770200-36781000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr14:36770400-36781200	Strong transcription	HepG2	liver
40	chr14:36770600-36781200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:36770600-36782800	Weak transcription	Hela-S3	cervix
42	chr14:36770800-36779000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:36771600-36781000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:36771800-36781000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:36771800-36781000	Strong transcription	Fetal Intestine Large	intestine
46	chr14:36771800-36781200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:36771800-36781200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr14:36771800-36783200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:36772000-36781000	Strong transcription	Brain Anterior Caudate	brain
50	chr14:36772000-36781000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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