Variant report

Variant	rs34518049
Chromosome Location	chr17:37675451-37675452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:37673655..37675893-chr17:37909404..37912318,2	K562	blood:
2	chr17:37674425..37676091-chr17:37681215..37683280,2	K562	blood:

Variant related genes	Relation type
ENSG00000167258	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11656614	1.00[CHD][hapmap]
rs12943456	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12944298	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12946275	1.00[AMR][1000 genomes]
rs12950784	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34079604	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34207136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34745517	0.80[AFR][1000 genomes]
rs34910003	0.82[AFR][1000 genomes]
rs35270682	0.81[AFR][1000 genomes]
rs35366897	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs35442489	0.81[AFR][1000 genomes]
rs35499078	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs35550184	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs35598597	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35701477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35829705	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap]
rs35929798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35986399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36025330	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4988981	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57059040	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58452873	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60114874	1.00[AMR][1000 genomes]
rs6503512	1.00[YRI][hapmap]
rs71369773	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71369774	0.82[AFR][1000 genomes]
rs71369775	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71369777	1.00[AMR][1000 genomes]
rs7218668	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs7219611	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7219683	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7224847	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7226215	0.96[AFR][1000 genomes]
rs7226222	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs8064372	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs8068102	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap]
rs8069155	1.00[CHD][hapmap]
rs8069194	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs8073144	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs8074199	1.00[YRI][hapmap]
rs8076843	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap]
rs8077259	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs8077629	0.90[ASW][hapmap];0.91[YRI][hapmap]
rs8081144	1.00[ASW][hapmap];0.93[LWK][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
6	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
8	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
9	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv1063848	chr17:37575622-37707592	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37624000-37680400	Weak transcription	Fetal Brain Male	brain
2	chr17:37624000-37690600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:37626600-37690600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:37628400-37682200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:37634200-37688600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr17:37635200-37680600	Weak transcription	Fetal Heart	heart
7	chr17:37636200-37685800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr17:37640400-37691000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr17:37642000-37689600	Strong transcription	Fetal Thymus	thymus
10	chr17:37642600-37680400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr17:37643200-37688600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr17:37643400-37689000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr17:37644000-37685200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:37644400-37688200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr17:37645000-37689000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr17:37645000-37689600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr17:37645400-37685600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr17:37645600-37689200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr17:37646000-37684800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr17:37646000-37688400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr17:37646400-37688200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr17:37646400-37688600	Strong transcription	Fetal Intestine Large	intestine
23	chr17:37646400-37689800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr17:37646600-37687200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr17:37646600-37688200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr17:37646600-37688800	Strong transcription	Liver	Liver
27	chr17:37646600-37689600	Strong transcription	Dnd41	blood
28	chr17:37646600-37690200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:37646800-37682200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr17:37646800-37683800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr17:37646800-37685600	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr17:37646800-37686200	Strong transcription	Adipose Nuclei	Adipose
33	chr17:37646800-37688200	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr17:37646800-37688600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr17:37646800-37688600	Strong transcription	Placenta	Placenta
36	chr17:37646800-37689000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr17:37646800-37689000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:37646800-37689000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr17:37646800-37689200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr17:37646800-37689200	Strong transcription	HepG2	liver
41	chr17:37646800-37690000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr17:37653800-37688400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr17:37655400-37689200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr17:37655600-37689600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr17:37655600-37689800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr17:37656000-37688800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr17:37656200-37682200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr17:37657400-37689200	Strong transcription	Duodenum Mucosa	Duodenum
49	chr17:37658000-37687000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr17:37659200-37689200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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