Variant report

Variant	rs546855941
Chromosome Location	chr17:37521994-37521995
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37520195..37522165-chr17:37528962..37530687,2	K562	blood:
2	chr17:37512569..37514267-chr17:37520707..37522674,2	K562	blood:
3	chr17:37521792..37524583-chr17:37607126..37608891,2	K562	blood:
4	chr17:37507661..37509338-chr17:37520135..37522515,3	K562	blood:
5	chr17:37519060..37522693-chr17:37557724..37561471,3	K562	blood:

Variant related genes	Relation type
ENSG00000125686	Chromatin interaction
ENSG00000266469	Chromatin interaction
ENSG00000108306	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37461400-37522000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:37463800-37528200	Weak transcription	HSMMtube	muscle
3	chr17:37489000-37522200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr17:37492400-37522400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr17:37496400-37534000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr17:37496800-37522000	Weak transcription	Fetal Stomach	stomach
7	chr17:37498200-37534200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr17:37498400-37522800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr17:37498600-37525200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr17:37498600-37529600	Weak transcription	Primary T cells from cord blood	blood
11	chr17:37498600-37532600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr17:37498600-37541200	Weak transcription	Fetal Thymus	thymus
13	chr17:37498600-37543800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr17:37498600-37544000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr17:37498800-37556400	Weak transcription	Thymus	Thymus
16	chr17:37499200-37544000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr17:37509000-37543000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr17:37509600-37522000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr17:37509600-37522000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr17:37512200-37522600	Weak transcription	Gastric	stomach
21	chr17:37514800-37556200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr17:37515000-37525800	Weak transcription	Fetal Intestine Small	intestine
23	chr17:37515400-37555600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr17:37515600-37543200	Weak transcription	Fetal Intestine Large	intestine
25	chr17:37517400-37526000	Weak transcription	Spleen	Spleen
26	chr17:37517600-37522000	Weak transcription	Brain Angular Gyrus	brain
27	chr17:37517600-37522000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr17:37517600-37522400	Weak transcription	Right Ventricle	heart
29	chr17:37517600-37535600	Weak transcription	Psoas Muscle	Psoas
30	chr17:37517600-37536400	Weak transcription	Brain Anterior Caudate	brain
31	chr17:37517600-37555200	Weak transcription	Brain Germinal Matrix	brain
32	chr17:37517600-37556600	Weak transcription	Fetal Muscle Leg	muscle
33	chr17:37517800-37522000	Weak transcription	Brain Hippocampus Middle	brain
34	chr17:37518000-37554800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr17:37519600-37522800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr17:37519800-37522800	Enhancers	Adipose Nuclei	Adipose
37	chr17:37520400-37522000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr17:37520600-37523000	Enhancers	Colon Smooth Muscle	Colon
39	chr17:37520800-37522000	Enhancers	NH-A	brain
40	chr17:37520800-37522800	Enhancers	Rectal Smooth Muscle	rectum
41	chr17:37521000-37522000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr17:37521000-37522200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr17:37521000-37522400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr17:37521000-37541400	Weak transcription	Right Atrium	heart
45	chr17:37521200-37522000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr17:37521200-37522000	Weak transcription	HSMM	muscle
47	chr17:37521200-37522000	Active TSS	NHDF-Ad	bronchial
48	chr17:37521200-37522600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr17:37521200-37522800	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr17:37521200-37532600	Weak transcription	Left Ventricle	heart

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