Variant report

Variant	rs17597667
Chromosome Location	chr14:35808389-35808390
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35759879..35772372-chr14:35797131..35808840,38	MCF-7	breast:
2	chr14:35801529..35804372-chr14:35808012..35809578,2	K562	blood:
3	chr14:35802795..35808702-chr14:35869869..35875069,9	K562	blood:
4	chr14:35806177..35808702-chr14:35872439..35875223,3	K562	blood:
5	chr14:35451847..35453370-chr14:35805990..35808420,2	MCF-7	breast:
6	chr14:35801529..35803038-chr14:35808078..35809983,2	K562	blood:
7	chr14:35801385..35810310-chr14:35830739..35838852,15	K562	blood:
8	chr14:35759417..35767612-chr14:35799689..35808998,23	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100883	Chromatin interaction
ENSG00000100902	Chromatin interaction
ENSG00000258860	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000265530	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10134120	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10137628	0.85[EUR][1000 genomes]
rs10438061	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs11845412	0.89[EUR][1000 genomes]
rs17103097	1.00[CEU][hapmap]
rs17103098	1.00[CEU][hapmap]
rs17103110	1.00[CEU][hapmap]
rs17456102	1.00[AFR][1000 genomes]
rs17457389	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17457568	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17458137	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17458214	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17458367	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs17458562	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17458715	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17512725	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17513024	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17535082	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs17536892	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17536948	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17537213	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17537248	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17597246	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17598437	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17598701	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs17598816	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2057336	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2057339	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs28510695	0.85[EUR][1000 genomes]
rs4982256	0.98[EUR][1000 genomes]
rs6571711	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7140912	1.00[CEU][hapmap]
rs7143518	1.00[AFR][1000 genomes]
rs7147426	1.00[CEU][hapmap]
rs7150752	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7151763	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7156874	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7159008	1.00[CEU][hapmap]
rs8015909	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv456205	chr14:35772940-35826370	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv564318	chr14:35772940-35826370	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1829386	chr14:35789740-35845927	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv518090	chr14:35802483-35840241	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35800000-35815000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr14:35800600-35814400	Enhancers	Placenta	Placenta
3	chr14:35800800-35812200	Enhancers	Fetal Thymus	thymus
4	chr14:35800800-35813800	Enhancers	Lung	lung
5	chr14:35801000-35810400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:35801400-35810200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:35802800-35809000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr14:35802800-35810200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:35803000-35810400	Enhancers	Liver	Liver
10	chr14:35803400-35809000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr14:35803600-35808600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:35803600-35808600	Weak transcription	GM12878-XiMat	blood
13	chr14:35803600-35808800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:35803800-35808600	Weak transcription	Primary T cells from cord blood	blood
15	chr14:35803800-35808800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr14:35803800-35808800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr14:35804000-35808600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr14:35804000-35808600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:35804600-35810800	Enhancers	Esophagus	oesophagus
20	chr14:35805800-35821000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:35806000-35808800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr14:35806000-35810200	Enhancers	Adipose Nuclei	Adipose
23	chr14:35806200-35808800	Enhancers	Duodenum Mucosa	Duodenum
24	chr14:35806200-35812400	Enhancers	Ovary	ovary
25	chr14:35806400-35810600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:35806400-35810800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:35806600-35808600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:35806600-35809000	Weak transcription	HSMMtube	muscle
29	chr14:35806600-35810000	Weak transcription	Fetal Heart	heart
30	chr14:35806600-35810200	Weak transcription	Brain Anterior Caudate	brain
31	chr14:35806800-35808600	Enhancers	NHEK	skin
32	chr14:35806800-35810400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr14:35806800-35816200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:35806800-35816600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:35807000-35808400	Weak transcription	Fetal Stomach	stomach
36	chr14:35807000-35808800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr14:35807000-35808800	Weak transcription	HSMM	muscle
38	chr14:35807000-35810000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr14:35807000-35810200	Weak transcription	Fetal Kidney	kidney
40	chr14:35807000-35810200	Enhancers	Stomach Smooth Muscle	stomach
41	chr14:35807000-35810200	Enhancers	A549	lung
42	chr14:35807000-35810200	Weak transcription	HUVEC	blood vessel
43	chr14:35807000-35810400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr14:35807000-35810400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:35807000-35810400	Weak transcription	NH-A	brain
46	chr14:35807000-35810600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr14:35807000-35810600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr14:35807000-35810800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:35807200-35808400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:35807200-35808600	Weak transcription	Brain Hippocampus Middle	brain

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