Variant report

Variant	rs557040291
Chromosome Location	chr20:29613242-29613243
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	chr20:29611333..29614057-chr4:190860675..190863034,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109536	Chromatin interaction
ENSG00000245685	Chromatin interaction

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	esv3413490	chr20:29613146-29614729	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29609400-29614200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr20:29610600-29614800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:29610600-29614800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr20:29610800-29613400	ZNF genes & repeats	HMEC	breast
5	chr20:29610800-29613400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr20:29610800-29613600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr20:29610800-29613600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr20:29610800-29613600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
9	chr20:29610800-29613600	ZNF genes & repeats	Fetal Brain Male	brain
10	chr20:29610800-29614800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr20:29610800-29614800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
12	chr20:29611000-29613400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr20:29611000-29613400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr20:29611000-29613400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr20:29611000-29613800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr20:29611000-29613800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr20:29611000-29613800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
18	chr20:29611200-29613400	Active TSS	Ovary	ovary
19	chr20:29611200-29613600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr20:29611400-29613400	Active TSS	Psoas Muscle	Psoas
21	chr20:29611400-29613600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr20:29611400-29613600	Active TSS	Colon Smooth Muscle	Colon
23	chr20:29611400-29614000	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr20:29611600-29613400	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr20:29611600-29613400	Active TSS	K562	blood
26	chr20:29611600-29613600	Active TSS	Brain Angular Gyrus	brain
27	chr20:29611600-29613600	Active TSS	A549	lung
28	chr20:29612400-29613400	Weak transcription	Lung	lung
29	chr20:29612400-29613600	Active TSS	Muscle Satellite Cultured Cells	--
30	chr20:29612400-29613600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr20:29612400-29613600	Active TSS	GM12878-XiMat	blood
32	chr20:29612400-29613800	Active TSS	NHDF-Ad	bronchial
33	chr20:29612600-29613400	Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr20:29612600-29613400	Weak transcription	Small Intestine	intestine
35	chr20:29612600-29613800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr20:29612600-29616200	Weak transcription	Gastric	stomach
37	chr20:29612600-29616800	Weak transcription	Fetal Intestine Large	intestine
38	chr20:29612600-29618600	Weak transcription	Pancreas	Pancrea
39	chr20:29612600-29622400	Weak transcription	Aorta	Aorta
40	chr20:29612800-29613400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr20:29612800-29613600	Enhancers	Primary B cells from peripheral blood	blood
42	chr20:29612800-29613600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr20:29612800-29613600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr20:29612800-29613600	Enhancers	Brain Substantia Nigra	brain
45	chr20:29612800-29613800	Flanking Active TSS	Dnd41	blood
46	chr20:29612800-29614600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr20:29613000-29613400	Enhancers	Primary T cells from cord blood	blood
48	chr20:29613000-29613400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr20:29613000-29613400	Weak transcription	Brain Anterior Caudate	brain
50	chr20:29613000-29613400	Enhancers	Duodenum Smooth Muscle	Duodenum

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