Variant report

Variant	rs376231132
Chromosome Location	chr20:29616950-29616951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758518	chr20:29419570-29653908	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv2758791	chr20:29419570-29653908	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv428028	chr20:29419570-29653908	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv428376	chr20:29419570-29653908	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1062766	chr20:29420340-29635454	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv833950	chr20:29472154-29638425	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1058387	chr20:29479828-29651199	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv2756736	chr20:29493193-29630695	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1067193	chr20:29525410-29651199	Enhancers ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv11674	chr20:29528011-29653880	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv965870	chr20:29570138-29652376	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv3359503	chr20:29579591-29639989	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	esv3336027	chr20:29579691-29639889	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	esv3337149	chr20:29579691-29639889	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	esv3343795	chr20:29579691-29639889	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	esv3380005	chr20:29579691-29639889	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	esv3441285	chr20:29579691-29639889	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	esv15335	chr20:29580700-29653880	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv585870	chr20:29603773-29648195	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
20	nsv585871	chr20:29612406-29648195	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv585872	chr20:29612406-29648263	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv585873	chr20:29616742-29651821	ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29612600-29618600	Weak transcription	Pancreas	Pancrea
2	chr20:29612600-29622400	Weak transcription	Aorta	Aorta
3	chr20:29613000-29617200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr20:29613000-29617200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr20:29613200-29634400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr20:29613600-29618800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr20:29613600-29619800	Weak transcription	Brain Angular Gyrus	brain
8	chr20:29613600-29622400	Weak transcription	Left Ventricle	heart
9	chr20:29613600-29622400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr20:29613600-29630600	Weak transcription	Colon Smooth Muscle	Colon
11	chr20:29613600-29634200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr20:29613600-29634400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr20:29613600-29634600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr20:29613800-29618800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr20:29613800-29620800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr20:29615600-29617400	Enhancers	Dnd41	blood
17	chr20:29616000-29617000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
18	chr20:29616000-29617400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr20:29616000-29617400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
20	chr20:29616000-29617400	ZNF genes & repeats	HepG2	liver
21	chr20:29616000-29625200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr20:29616200-29617400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr20:29616400-29617000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr20:29616400-29618400	Weak transcription	Psoas Muscle	Psoas
25	chr20:29616400-29618400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr20:29616400-29619000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr20:29616400-29619600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr20:29616400-29619800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr20:29616400-29621000	Weak transcription	Small Intestine	intestine
30	chr20:29616400-29622400	Weak transcription	Gastric	stomach
31	chr20:29616400-29626600	Weak transcription	Brain Substantia Nigra	brain
32	chr20:29616400-29626600	Weak transcription	HSMMtube	muscle
33	chr20:29616600-29617000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr20:29616600-29617200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr20:29616600-29618400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr20:29616600-29618400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr20:29616600-29618400	Weak transcription	K562	blood
38	chr20:29616600-29620600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr20:29616600-29620800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr20:29616800-29617200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr20:29616800-29617200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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