Variant report

Variant	rs536496231
Chromosome Location	chr20:23615775-23615776
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	NR3C1	chr20:23615744-23616307	A549	lung:	n/a	chr20:23616031-23616045 chr20:23616030-23616046 chr20:23616027-23616048 chr20:23616031-23616045 chr20:23616030-23616047 chr20:23616030-23616046
2	POLR2A	chr20:23615415-23616432	HepG2	liver:	n/a	n/a
3	POLR2A	chr20:23614494-23618787	HepG2	liver:	n/a	n/a
4	POLR2A	chr20:23615530-23615849	MCF-7	breast:	n/a	n/a
5	POLR2A	chr20:23611829-23619325	HepG2	liver:	n/a	n/a
6	HEY1	chr20:23615419-23616671	HepG2	liver:	n/a	n/a
7	POLR2A	chr20:23615259-23617766	HepG2	liver:	n/a	n/a
8	POLR2A	chr20:23615739-23615939	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr20:23615672-23616206	K562	blood:	n/a	n/a
10	POLR2A	chr20:23615694-23615916	A549	lung:	n/a	n/a
11	POLR2A	chr20:23615753-23616040	MCF-7	breast:	n/a	n/a
12	HEY1	chr20:23615393-23617806	HepG2	liver:	n/a	n/a
13	POLR2A	chr20:23615606-23616211	HepG2	liver:	n/a	n/a
14	POLR2A	chr20:23614496-23617566	HepG2	liver:	n/a	n/a
15	POLR2A	chr20:23611753-23618814	HepG2	liver:	n/a	n/a
16	POLR2A	chr20:23615771-23615779	K562	blood:	n/a	n/a
17	MYC	chr20:23615750-23615840	MCF-7	breast:	n/a	n/a
18	POLR2A	chr20:23615326-23618779	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr20:23615723-23616161	A549	lung:	n/a	n/a
20	POLR2A	chr20:23615277-23616335	K562	blood:	n/a	n/a
21	POLR2A	chr20:23615551-23616337	HepG2	liver:	n/a	n/a
22	NR3C1	chr20:23615761-23616153	A549	lung:	n/a	chr20:23616031-23616045 chr20:23616030-23616046 chr20:23616027-23616048 chr20:23616031-23616045 chr20:23616030-23616047 chr20:23616030-23616046
23	TCF12	chr20:23615519-23616278	HepG2	liver:	n/a	chr20:23616170-23616177 chr20:23616172-23616179
24	MBD4	chr20:23615477-23616458	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:23610507..23612555-chr20:23613561..23616038,2	MCF-7	breast:
2	chr20:23604645..23607070-chr20:23613987..23616956,2	K562	blood:
3	chr20:23400310..23402508-chr20:23615661..23618868,3	MCF-7	breast:
4	chr20:23615491..23618366-chr20:23625789..23627708,2	MCF-7	breast:
5	chr20:23615462..23617688-chr20:23624542..23627030,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270001	TF binding region
ENSG00000125814	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer 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 miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv964381	chr20:23614805-23621846	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23600600-23617000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:23602000-23616800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr20:23604000-23616600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr20:23604000-23616800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr20:23606600-23617000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr20:23606800-23616600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr20:23609800-23616800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr20:23610200-23616800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr20:23610200-23617000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr20:23610200-23617000	Weak transcription	K562	blood
11	chr20:23610400-23616000	Weak transcription	Fetal Thymus	thymus
12	chr20:23610400-23616800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr20:23610400-23616800	Weak transcription	NH-A	brain
14	chr20:23610400-23618200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr20:23610600-23616800	Weak transcription	Hela-S3	cervix
16	chr20:23610800-23616800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr20:23610800-23617400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr20:23611000-23616000	Strong transcription	Fetal Intestine Small	intestine
19	chr20:23611200-23615800	Weak transcription	GM12878-XiMat	blood
20	chr20:23612000-23617000	Genic enhancers	Fetal Muscle Trunk	muscle
21	chr20:23612200-23615800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr20:23612200-23615800	Strong transcription	Aorta	Aorta
23	chr20:23612200-23616200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr20:23612400-23615800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr20:23612400-23616000	Strong transcription	Fetal Stomach	stomach
26	chr20:23612600-23616000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr20:23612600-23616600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr20:23612600-23616600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr20:23612600-23617200	Genic enhancers	Fetal Muscle Leg	muscle
30	chr20:23612800-23616200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr20:23612800-23617200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr20:23613000-23616800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr20:23613400-23615800	Strong transcription	Osteobl	bone
34	chr20:23613800-23616000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr20:23613800-23617200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr20:23614200-23616600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr20:23614400-23616600	Enhancers	Psoas Muscle	Psoas
38	chr20:23614600-23616600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr20:23614600-23617200	Genic enhancers	Gastric	stomach
40	chr20:23614600-23617400	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr20:23614800-23616000	Genic enhancers	Stomach Mucosa	stomach
42	chr20:23614800-23616200	Genic enhancers	Right Ventricle	heart
43	chr20:23614800-23616600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr20:23614800-23617200	Genic enhancers	Lung	lung
45	chr20:23614800-23617200	Genic enhancers	Spleen	Spleen
46	chr20:23614800-23617400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr20:23614800-23617400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr20:23615000-23616000	Genic enhancers	Brain Anterior Caudate	brain
49	chr20:23615000-23616200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
50	chr20:23615000-23616200	Genic enhancers	HSMM	muscle

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