Variant report

Variant	rs555078932
Chromosome Location	chr20:29638892-29638893
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:29635621-29638932	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:29637616..29639102-chr4:190894557..190895938,8	MCF-7	breast:
2	chr20:29634644..29639248-chr4:190892116..190896171,7	MCF-7	breast:
3	chr20:29634371..29640092-chr4:190891314..190895900,7	MCF-7	breast:

Variant related genes	Relation type
MLLT10P1	TF binding region
ENSG00000249462	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:34 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	nsv821487	chr20:29629343-29652652	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv828711	chr20:29629343-29652652	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv585874	chr20:29633277-29651821	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	esv7214	chr20:29638542-29641660	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv436321	chr20:29638637-29645554	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	esv3420645	chr20:29638675-29641488	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
26	esv3392626	chr20:29638691-29640739	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
27	esv3419758	chr20:29638695-29641497	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
28	esv3446706	chr20:29638696-29641520	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
29	esv3485532	chr20:29638699-29641449	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
30	esv3454242	chr20:29638730-29641427	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
31	esv3454243	chr20:29638730-29641427	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
32	esv3404333	chr20:29638731-29641480	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
33	esv3485533	chr20:29638754-29641449	ZNF genes & repeats Strong transcription Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
34	esv3485530	chr20:29638754-29641456	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29622600-29639000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr20:29625600-29639000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr20:29625800-29639000	ZNF genes & repeats	HepG2	liver
4	chr20:29626600-29640200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr20:29628000-29639000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr20:29628400-29639000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
7	chr20:29630600-29639000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
8	chr20:29631800-29639000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr20:29632400-29639000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr20:29633200-29639000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr20:29633200-29639000	ZNF genes & repeats	Primary B cells from cord blood	blood
12	chr20:29633200-29639000	ZNF genes & repeats	Dnd41	blood
13	chr20:29633800-29639000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr20:29634000-29639000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr20:29634200-29639000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr20:29634200-29639000	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr20:29634200-29639000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
18	chr20:29634200-29639000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
19	chr20:29634200-29639000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
20	chr20:29634200-29639000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr20:29634400-29639000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
22	chr20:29634400-29639000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr20:29634400-29639000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
24	chr20:29634400-29639000	ZNF genes & repeats	Fetal Lung	lung
25	chr20:29634400-29640400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
26	chr20:29635800-29639000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr20:29636200-29639800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr20:29637600-29639000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr20:29637600-29639000	ZNF genes & repeats	Liver	Liver
30	chr20:29637800-29639000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr20:29637800-29639000	ZNF genes & repeats	Aorta	Aorta
32	chr20:29637800-29639000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
33	chr20:29637800-29639000	ZNF genes & repeats	Colonic Mucosa	Colon
34	chr20:29637800-29639000	ZNF genes & repeats	Esophagus	oesophagus
35	chr20:29637800-29639000	ZNF genes & repeats	Ovary	ovary
36	chr20:29637800-29639000	ZNF genes & repeats	Pancreas	Pancrea
37	chr20:29637800-29639000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
38	chr20:29638600-29639400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr20:29638600-29639800	Weak transcription	Psoas Muscle	Psoas
40	chr20:29638600-29639800	Weak transcription	Small Intestine	intestine
41	chr20:29638600-29641400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr20:29638600-29641400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr20:29638600-29641400	Weak transcription	Left Ventricle	heart
44	chr20:29638600-29641400	Weak transcription	Right Ventricle	heart
45	chr20:29638800-29639600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr20:29638800-29639600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr20:29638800-29639800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr20:29638800-29640200	Weak transcription	Stomach Mucosa	stomach
49	chr20:29638800-29641200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr20:29638800-29641200	Weak transcription	Rectal Smooth Muscle	rectum

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