Variant report

Variant	rs17537213
Chromosome Location	chr14:35765038-35765039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35762611..35765182-chr14:35880296..35882619,2	K562	blood:
2	chr14:35757780..35767592-chr14:35866063..35878024,53	MCF-7	breast:
3	chr14:35761890..35767767-chr14:35871223..35875046,8	K562	blood:
4	chr14:35763080..35765371-chr14:35856574..35858405,2	MCF-7	breast:
5	chr14:35683125..35684934-chr14:35764206..35766874,2	MCF-7	breast:
6	chr14:35757192..35766588-chr14:35865950..35877395,53	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240023	Chromatin interaction
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10134120	0.82[CEU][hapmap];0.94[EUR][1000 genomes]
rs10137628	0.94[EUR][1000 genomes]
rs10138507	0.83[EUR][1000 genomes]
rs10438061	0.85[CEU][hapmap];0.94[EUR][1000 genomes]
rs17103097	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs17103098	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs17103110	0.82[CEU][hapmap];0.88[EUR][1000 genomes]
rs17456102	1.00[AFR][1000 genomes]
rs17457389	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17457568	0.85[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17458137	0.85[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17458214	0.85[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17458367	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17458562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17458715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17512725	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17513024	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17535082	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17536892	0.85[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17536948	0.85[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17537248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17597246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17597667	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17598437	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17598701	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17598816	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2057336	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2057339	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2295104	1.00[YRI][hapmap]
rs28446606	0.83[EUR][1000 genomes]
rs28472413	0.83[EUR][1000 genomes]
rs28510695	0.94[EUR][1000 genomes]
rs28549180	0.82[EUR][1000 genomes]
rs45573840	1.00[AFR][1000 genomes]
rs4982256	0.88[EUR][1000 genomes]
rs6571711	0.85[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7143518	1.00[AFR][1000 genomes]
rs7147426	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs7150752	0.85[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7151763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7156874	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7159008	0.85[CEU][hapmap]
rs8014945	1.00[AFR][1000 genomes]
rs8015909	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS 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	50 gene(s)	inside rSNPs	diseases
3	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers 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	34 gene(s)	inside rSNPs	diseases
4	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
5	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
6	nsv1038396	chr14:35714499-35788189	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1045288	chr14:35735886-35788189	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1043840	chr14:35739319-35791879	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35760600-35765200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr14:35761800-35767400	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr14:35762600-35774400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:35762600-35778400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:35762800-35766000	Enhancers	Fetal Lung	lung
6	chr14:35762800-35768200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr14:35762800-35778600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:35762800-35778800	Weak transcription	Aorta	Aorta
9	chr14:35763200-35765800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:35763200-35766200	Enhancers	Fetal Brain Male	brain
11	chr14:35763200-35777000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:35763200-35778000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:35763200-35780000	Weak transcription	Fetal Kidney	kidney
14	chr14:35763200-35789600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:35763400-35765800	Enhancers	Spleen	Spleen
16	chr14:35763600-35765200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:35763600-35765400	Genic enhancers	Fetal Brain Female	brain
18	chr14:35763600-35775000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:35763600-35776800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr14:35763600-35777000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr14:35763600-35778800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:35763800-35765200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:35763800-35766800	Weak transcription	Colon Smooth Muscle	Colon
24	chr14:35763800-35767000	Enhancers	Left Ventricle	heart
25	chr14:35763800-35768200	Weak transcription	NH-A	brain
26	chr14:35763800-35777200	Weak transcription	Placenta	Placenta
27	chr14:35763800-35777600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:35763800-35777800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr14:35763800-35777800	Weak transcription	HSMM	muscle
30	chr14:35763800-35778600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:35763800-35778600	Weak transcription	Colonic Mucosa	Colon
32	chr14:35763800-35778600	Weak transcription	Esophagus	oesophagus
33	chr14:35763800-35778600	Weak transcription	Ovary	ovary
34	chr14:35763800-35779200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:35764000-35765200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:35764000-35765200	Enhancers	Right Atrium	heart
37	chr14:35764000-35765400	Genic enhancers	Muscle Satellite Cultured Cells	--
38	chr14:35764000-35765400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:35764000-35765400	Enhancers	Psoas Muscle	Psoas
40	chr14:35764000-35765600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr14:35764000-35766000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr14:35764000-35767000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr14:35764000-35767200	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr14:35764000-35767600	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr14:35764000-35768400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:35764000-35769200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr14:35764000-35769800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr14:35764000-35770000	Enhancers	Adipose Nuclei	Adipose
49	chr14:35764000-35771000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:35764000-35771600	Enhancers	Primary monocytes fromperipheralblood	blood

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