Variant report

Variant	rs6078231
Chromosome Location	chr20:1206145-1206146
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:1205984-1206443	H1-neurons	neurons:	n/a	n/a
2	NRF1	chr20:1205944-1206339	SK-N-SH	brain:	n/a	n/a
3	MAZ	chr20:1206086-1207723	K562	blood:	n/a	chr20:1207386-1207395
4	POLR2A	chr20:1206048-1206329	HCT-116	colon:	n/a	n/a
5	POLR2A	chr20:1206053-1206303	H1-hESC	embryonic stem cell:	n/a	n/a
6	TAF1	chr20:1206063-1206328	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr20:1205987-1206404	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr20:1206077-1206368	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr20:1206075-1206269	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAZ	chr20:1205924-1206331	HepG2	liver:	n/a	n/a
11	POLR2A	chr20:1206134-1206288	A549	lung:	n/a	n/a
12	MAX	chr20:1205936-1207530	HepG2	liver:	n/a	chr20:1207386-1207395
13	POLR2A	chr20:1206118-1206322	K562	blood:	n/a	n/a
14	POLR2A	chr20:1206105-1206293	A549	lung:	n/a	n/a
15	POLR2A	chr20:1205839-1206387	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAZ	chr20:1205938-1207684	IMR90	lung:	n/a	chr20:1207386-1207395
17	POLR2A	chr20:1206057-1206232	ProgFib	skin:	n/a	n/a
18	GABPA	chr20:1206044-1206264	H1-hESC	embryonic stem cell:	n/a	n/a
19	UBTF	chr20:1205999-1206294	K562	blood:	n/a	n/a
20	MYC	chr20:1205916-1206196	H1-hESC	embryonic stem cell:	n/a	n/a
21	NRF1	chr20:1205954-1206225	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr20:1205923-1206215	HepG2	liver:	n/a	n/a
23	POLR2A	chr20:1206121-1206271	MCF-7	breast:	n/a	n/a
24	POLR2A	chr20:1206106-1206323	Gliobla	brain:	n/a	n/a
25	POLR2A	chr20:1206064-1206296	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr20:1206026-1206332	HCT-116	colon:	n/a	n/a
27	TAF1	chr20:1206037-1206287	H1-hESC	embryonic stem cell:	n/a	n/a
28	TBP	chr20:1206003-1206296	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr20:1206127-1206300	A549	lung:	n/a	n/a
30	ZNF263	chr20:1205973-1206284	HEK293-T-REx	kidney:	n/a	n/a
31	POLR2A	chr20:1206104-1206190	HepG2	liver:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1204614..1208313-chr20:1245857..1250887,4	K562	blood:

No data

Variant related genes	Relation type
RAD21L1	TF binding region
ENSG00000101298	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	nsv531450	chr20:809607-1221836	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1058524	chr20:821434-1254865	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv544138	chr20:821434-1254865	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1057939	chr20:824980-1316778	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv912585	chr20:992713-1210647	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1057097	chr20:1030940-1314265	Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv516776	chr20:1195784-1233893	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv912586	chr20:1195784-1248286	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv518957	chr20:1195784-1250463	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv3436470	chr20:1205377-1207925	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv3509885	chr20:1205427-1207700	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv3509887	chr20:1205427-1207700	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv912587	chr20:1205886-1248286	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv3435944	chr20:1206002-1207250	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1205800-1206800	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
2	chr20:1205800-1207000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr20:1205800-1207000	Active TSS	A549	lung
4	chr20:1205800-1207200	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr20:1205800-1207400	Active TSS	Primary T cells from cord blood	blood
6	chr20:1205800-1207600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr20:1205800-1207600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr20:1205800-1207800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr20:1205800-1207800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr20:1205800-1207800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr20:1205800-1207800	Active TSS	Brain Cingulate Gyrus	brain
12	chr20:1206000-1206200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr20:1206000-1206200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr20:1206000-1206200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr20:1206000-1206200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr20:1206000-1206200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr20:1206000-1206200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr20:1206000-1206200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
19	chr20:1206000-1206200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
20	chr20:1206000-1206200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr20:1206000-1206200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr20:1206000-1206200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr20:1206000-1206200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr20:1206000-1206200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
25	chr20:1206000-1206200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr20:1206000-1206200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
27	chr20:1206000-1206200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr20:1206000-1206200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr20:1206000-1206200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr20:1206000-1206200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr20:1206000-1206200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr20:1206000-1206200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr20:1206000-1206200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr20:1206000-1206200	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr20:1206000-1206200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
36	chr20:1206000-1206200	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
37	chr20:1206000-1206200	Flanking Active TSS	Colonic Mucosa	Colon
38	chr20:1206000-1206200	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
39	chr20:1206000-1206200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr20:1206000-1206200	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr20:1206000-1206200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr20:1206000-1206200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
43	chr20:1206000-1206200	Flanking Bivalent TSS/Enh	Placenta	Placenta
44	chr20:1206000-1206200	Enhancers	Gastric	stomach
45	chr20:1206000-1206200	Flanking Active TSS	Ovary	ovary
46	chr20:1206000-1206200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
47	chr20:1206000-1206200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr20:1206000-1206200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
49	chr20:1206000-1206200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
50	chr20:1206000-1206200	Flanking Bivalent TSS/Enh	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links