Variant report

Variant	rs17104312
Chromosome Location	chr14:36764754-36764755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:36759414..36761344-chr14:36764422..36766950,2	MCF-7	breast:
2	chr14:36763341..36766160-chr14:36772206..36774961,2	K562	blood:
3	chr14:36764356..36766660-chr14:36769237..36771689,3	K562	blood:

Variant related genes	Relation type
ENSG00000151332	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11845435	0.81[AFR][1000 genomes]
rs11848560	0.93[AMR][1000 genomes]
rs11848982	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11849308	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11850315	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17104290	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104335	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17104348	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17104349	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs41479848	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs73253635	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs73253636	0.84[AMR][1000 genomes]
rs9944138	0.82[AFR][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	nsv1051045	chr14:36116503-36764947	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv542038	chr14:36116503-36764947	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	esv34543	chr14:36736349-36772564	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	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
14	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

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36749400-36765600	Weak transcription	HMEC	breast
2	chr14:36749600-36765600	Weak transcription	Brain Germinal Matrix	brain
3	chr14:36750400-36765000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:36756400-36764800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:36756800-36765200	Weak transcription	HSMM	muscle
6	chr14:36757200-36765600	Weak transcription	Brain Substantia Nigra	brain
7	chr14:36757400-36765800	Weak transcription	Fetal Brain Male	brain
8	chr14:36757800-36764800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr14:36757800-36764800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:36758200-36764800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:36760400-36764800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:36760400-36764800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:36760400-36764800	Weak transcription	Left Ventricle	heart
14	chr14:36760600-36765000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:36761000-36764800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:36761000-36764800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:36761000-36785000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:36761200-36765400	Weak transcription	Ovary	ovary
19	chr14:36761400-36764800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:36761400-36765200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr14:36761400-36767000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr14:36761600-36765400	Weak transcription	Adipose Nuclei	Adipose
23	chr14:36761600-36765800	Weak transcription	Liver	Liver
24	chr14:36761600-36766000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:36761800-36765800	Weak transcription	Thymus	Thymus
26	chr14:36761800-36766200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:36761800-36766400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr14:36761800-36766600	Weak transcription	NH-A	brain
29	chr14:36762000-36765200	Weak transcription	K562	blood
30	chr14:36762000-36765400	Weak transcription	Aorta	Aorta
31	chr14:36762000-36770400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr14:36762000-36778800	Weak transcription	Fetal Intestine Small	intestine
33	chr14:36762200-36765400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:36762200-36766000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr14:36762200-36766000	Weak transcription	NHDF-Ad	bronchial
36	chr14:36762200-36766800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:36762400-36765400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:36762400-36765600	Weak transcription	Fetal Lung	lung
39	chr14:36762400-36766000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr14:36762400-36766600	Weak transcription	A549	lung
41	chr14:36762600-36765000	Weak transcription	HepG2	liver
42	chr14:36762600-36765800	Weak transcription	Fetal Intestine Large	intestine
43	chr14:36762600-36769800	Weak transcription	NHLF	lung
44	chr14:36762800-36766000	Weak transcription	Primary B cells from cord blood	blood
45	chr14:36762800-36766400	Weak transcription	Right Ventricle	heart
46	chr14:36763000-36764800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr14:36763000-36765800	Weak transcription	HUVEC	blood vessel
48	chr14:36763000-36765800	Weak transcription	Osteobl	bone
49	chr14:36763200-36764800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr14:36763200-36764800	Weak transcription	Fetal Muscle Leg	muscle

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