Variant report

Variant	rs534188694
Chromosome Location	chr17:37472476-37472477
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	chr17:37471557..37473905-chr17:37476618..37478762,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057470	chr17:37135183-37549816	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv543339	chr17:37135183-37549816	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	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
4	nsv833441	chr17:37320807-37476796	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv1061084	chr17:37333956-37501598	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	nsv1055612	chr17:37409865-37563236	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv510709	chr17:37438419-37508395	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	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
15	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
16	nsv960030	chr17:37471987-37479670	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37425000-37473000	Weak transcription	Pancreas	Pancrea
2	chr17:37431400-37473400	Weak transcription	Esophagus	oesophagus
3	chr17:37436000-37496200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr17:37436800-37497800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr17:37444000-37478400	Weak transcription	Psoas Muscle	Psoas
6	chr17:37453400-37507800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr17:37454000-37511600	Weak transcription	Hela-S3	cervix
8	chr17:37454600-37473600	Weak transcription	Brain Substantia Nigra	brain
9	chr17:37454800-37473800	Weak transcription	Spleen	Spleen
10	chr17:37454800-37474400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr17:37455200-37499800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr17:37455400-37477400	Weak transcription	Ovary	ovary
13	chr17:37455400-37485200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr17:37455400-37495600	Weak transcription	Right Ventricle	heart
15	chr17:37455600-37484800	Weak transcription	Fetal Kidney	kidney
16	chr17:37455800-37495600	Weak transcription	Brain Germinal Matrix	brain
17	chr17:37456200-37499400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr17:37456400-37479800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr17:37457600-37497800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr17:37458000-37495000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr17:37458800-37476200	Weak transcription	Fetal Brain Female	brain
22	chr17:37459400-37474200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr17:37459400-37491000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr17:37459400-37495600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr17:37460200-37486800	Weak transcription	Fetal Intestine Large	intestine
26	chr17:37460200-37497600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr17:37460400-37498400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr17:37461000-37474600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr17:37461000-37497400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr17:37461000-37497600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr17:37461200-37472600	Weak transcription	Fetal Thymus	thymus
32	chr17:37461200-37480600	Weak transcription	Liver	Liver
33	chr17:37461200-37481800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr17:37461200-37485000	Weak transcription	HepG2	liver
35	chr17:37461200-37495200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr17:37461200-37495400	Weak transcription	Thymus	Thymus
37	chr17:37461200-37515400	Weak transcription	Lung	lung
38	chr17:37461400-37522000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr17:37461800-37485200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr17:37463000-37476000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr17:37463400-37474200	Weak transcription	Adipose Nuclei	Adipose
42	chr17:37463600-37474400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr17:37463800-37476600	Weak transcription	Colon Smooth Muscle	Colon
44	chr17:37463800-37482000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr17:37463800-37485000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr17:37463800-37490800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr17:37463800-37495000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr17:37463800-37528200	Weak transcription	HSMMtube	muscle
49	chr17:37464000-37481800	Weak transcription	Primary B cells from cord blood	blood
50	chr17:37464200-37477400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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