Variant report

Variant	rs546646402
Chromosome Location	chr17:37522994-37522995
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:37521792..37524583-chr17:37607126..37608891,2	K562	blood:

Variant related genes	Relation type
ENSG00000125686	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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	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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37463800-37528200	Weak transcription	HSMMtube	muscle
2	chr17:37496400-37534000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr17:37498200-37534200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:37498600-37525200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr17:37498600-37529600	Weak transcription	Primary T cells from cord blood	blood
6	chr17:37498600-37532600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr17:37498600-37541200	Weak transcription	Fetal Thymus	thymus
8	chr17:37498600-37543800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:37498600-37544000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr17:37498800-37556400	Weak transcription	Thymus	Thymus
11	chr17:37499200-37544000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr17:37509000-37543000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr17:37514800-37556200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr17:37515000-37525800	Weak transcription	Fetal Intestine Small	intestine
15	chr17:37515400-37555600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr17:37515600-37543200	Weak transcription	Fetal Intestine Large	intestine
17	chr17:37517400-37526000	Weak transcription	Spleen	Spleen
18	chr17:37517600-37535600	Weak transcription	Psoas Muscle	Psoas
19	chr17:37517600-37536400	Weak transcription	Brain Anterior Caudate	brain
20	chr17:37517600-37555200	Weak transcription	Brain Germinal Matrix	brain
21	chr17:37517600-37556600	Weak transcription	Fetal Muscle Leg	muscle
22	chr17:37518000-37554800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr17:37520600-37523000	Enhancers	Colon Smooth Muscle	Colon
24	chr17:37521000-37541400	Weak transcription	Right Atrium	heart
25	chr17:37521200-37532600	Weak transcription	Left Ventricle	heart
26	chr17:37521200-37541400	Weak transcription	Lung	lung
27	chr17:37521200-37544400	Weak transcription	Placenta	Placenta
28	chr17:37521600-37523200	Active TSS	K562	blood
29	chr17:37522000-37523000	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr17:37522000-37523200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:37522000-37523400	Enhancers	Ovary	ovary
32	chr17:37522000-37525400	Weak transcription	NH-A	brain
33	chr17:37522200-37523000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr17:37522400-37523000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr17:37522400-37534400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr17:37522400-37535800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr17:37522600-37523000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr17:37522600-37523000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr17:37522600-37523000	Weak transcription	Right Ventricle	heart
40	chr17:37522600-37532800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr17:37522600-37546800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr17:37522600-37555400	Weak transcription	Fetal Lung	lung
43	chr17:37522600-37556200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr17:37522800-37523000	Weak transcription	Gastric	stomach
45	chr17:37522800-37523200	Enhancers	Primary hematopoietic stem cells	blood
46	chr17:37522800-37523200	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr17:37522800-37526000	Weak transcription	Fetal Stomach	stomach
48	chr17:37522800-37532600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr17:37522800-37532800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr17:37522800-37535800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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