Variant report

Variant	rs2231944
Chromosome Location	chr19:41938208-41938209
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:41937926-41938232	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:41937563-41938842	K562	blood:	n/a	n/a
3	POLR2A	chr19:41936242-41939720	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:41937673-41938638	HCT-116	colon:	n/a	n/a
5	CTCF	chr19:41936665-41938558	A549	lung:	n/a	n/a
6	POLR2A	chr19:41936847-41938776	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr19:41937300-41938824	GM12891	blood:	n/a	n/a
8	POLR2A	chr19:41937270-41938898	HL-60	blood:	n/a	n/a
9	POLR2A	chr19:41937942-41938821	A549	lung:	n/a	n/a
10	POLR2A	chr19:41937991-41938711	MCF-7	breast:	n/a	n/a
11	POLR2A	chr19:41938059-41938280	A549	lung:	n/a	n/a
12	CTCF	chr19:41938159-41938237	GM19239	blood:	n/a	n/a
13	STAT5A	chr19:41938169-41939538	GM12878	blood:	n/a	chr19:41939348-41939360
14	POLR2A	chr19:41937955-41938832	GM12878	blood:	n/a	n/a
15	POLR2A	chr19:41937979-41938784	GM12878	blood:	n/a	n/a
16	POLR2A	chr19:41937714-41938836	GM12891	blood:	n/a	n/a
17	POLR2A	chr19:41937576-41938831	K562	blood:	n/a	n/a
18	POLR2A	chr19:41937478-41939233	HepG2	liver:	n/a	n/a
19	POLR2A	chr19:41938107-41938879	GM12892	blood:	n/a	n/a
20	BCL3	chr19:41937191-41939005	A549	lung:	n/a	n/a
21	GABPA	chr19:41938192-41938676	A549	lung:	n/a	n/a
22	POLR2A	chr19:41938129-41938672	U87	brain:	n/a	n/a
23	POLR2A	chr19:41938203-41938886	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr19:41937976-41938998	HepG2	liver:	n/a	n/a
25	POLR2A	chr19:41938005-41938832	GM12878	blood:	n/a	n/a
26	POLR2A	chr19:41938190-41938813	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr19:41936772-41939698	K562	blood:	n/a	n/a
28	POLR2A	chr19:41938182-41938783	GM12892	blood:	n/a	n/a
29	POLR2A	chr19:41937667-41938879	GM12891	blood:	n/a	n/a
30	POLR2A	chr19:41936609-41939024	K562	blood:	n/a	n/a
31	POLR2A	chr19:41938114-41938819	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr19:41937568-41939457	GM12892	blood:	n/a	n/a
33	POLR2A	chr19:41937712-41938779	A549	lung:	n/a	n/a
34	POLR2A	chr19:41938091-41938703	HCT-116	colon:	n/a	n/a
35	POLR2A	chr19:41937922-41938820	A549	lung:	n/a	n/a
36	POLR2A	chr19:41938070-41938667	U87	brain:	n/a	n/a
37	POLR2A	chr19:41937550-41938995	GM12892	blood:	n/a	n/a
38	POLR2A	chr19:41937832-41938778	SK-N-MC	brain:	n/a	n/a
39	POLR2A	chr19:41938035-41938822	A549	lung:	n/a	n/a
40	POLR2A	chr19:41938036-41938874	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr19:41937724-41938828	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr19:41937695-41938907	GM12878	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41936622..41939586-chr19:41947612..41949294,2	K562	blood:
2	chr19:41903978..41906376-chr19:41936347..41938650,2	K562	blood:
3	chr19:41936691..41939385-chr19:41940971..41942681,2	K562	blood:
4	chr19:41932170..41934404-chr19:41937034..41938933,2	MCF-7	breast:
5	chr19:41858044..41860036-chr19:41936343..41938976,2	MCF-7	breast:
6	chr19:41847307..41848133-chr19:41937452..41938215,2	MCF-7	breast:
7	chr19:41932057..41934259-chr19:41937890..41940958,3	MCF-7	breast:
8	chr19:41932975..41939032-chr19:41942824..41947362,11	K562	blood:
9	chr19:41869689..41871301-chr19:41934522..41938582,3	MCF-7	breast:
10	chr19:41854997..41857882-chr19:41936473..41939434,2	K562	blood:
11	chr19:41935462..41938566-chr19:41944097..41946991,4	MCF-7	breast:

No data

Variant related genes	Relation type
B3GNT8	TF binding region
ENSG00000123810	Chromatin interaction
ENSG00000268987	Chromatin interaction
ENSG00000177191	Chromatin interaction
ENSG00000105341	Chromatin interaction
ENSG00000204978	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000105329	Chromatin interaction
ENSG00000255730	Chromatin interaction

rs_ID	r²[population]
rs10418236	1.00[CEU][hapmap]
rs45623740	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59991538	0.89[AMR][1000 genomes]
rs61443543	1.00[EUR][1000 genomes]
rs7257601	1.00[CEU][hapmap]
rs7258787	0.89[AMR][1000 genomes]
rs7259208	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs73931450	1.00[EUR][1000 genomes]
rs73931722	1.00[EUR][1000 genomes]
rs8109838	1.00[CEU][hapmap]

SNP	Gene	Cis/trans	Tissue	Source
rs2231944	ATP5SL	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41934000-41944800	Weak transcription	Hela-S3	cervix
2	chr19:41934400-41939600	Strong transcription	Brain Germinal Matrix	brain
3	chr19:41934400-41945000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:41934600-41944200	Weak transcription	Fetal Brain Male	brain
5	chr19:41934800-41939600	Strong transcription	Fetal Brain Female	brain
6	chr19:41934800-41945400	Weak transcription	Small Intestine	intestine
7	chr19:41935000-41940000	Strong transcription	Fetal Stomach	stomach
8	chr19:41935000-41945000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr19:41935400-41938400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:41936000-41938400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:41936200-41940000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:41936400-41939000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:41936400-41939400	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr19:41936400-41939600	Strong transcription	Dnd41	blood
15	chr19:41936400-41939800	Strong transcription	NHEK	skin
16	chr19:41936600-41939200	Strong transcription	Brain Cingulate Gyrus	brain
17	chr19:41936600-41939400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:41936600-41939400	Strong transcription	Brain Anterior Caudate	brain
19	chr19:41936600-41939600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr19:41936600-41939600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr19:41936600-41939600	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr19:41936600-41939800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:41936600-41940600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:41936600-41944200	Strong transcription	A549	lung
25	chr19:41936800-41938400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:41936800-41938400	Genic enhancers	Fetal Muscle Trunk	muscle
27	chr19:41936800-41938800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr19:41936800-41938800	Genic enhancers	Liver	Liver
29	chr19:41936800-41939000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
30	chr19:41936800-41939200	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr19:41936800-41939400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:41936800-41939400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr19:41936800-41939600	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr19:41936800-41939600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr19:41936800-41939600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr19:41936800-41939600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr19:41936800-41939600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr19:41936800-41939600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:41936800-41939600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr19:41936800-41939600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr19:41936800-41939600	Strong transcription	Colon Smooth Muscle	Colon
42	chr19:41936800-41939600	Strong transcription	Fetal Thymus	thymus
43	chr19:41936800-41939600	Strong transcription	Gastric	stomach
44	chr19:41936800-41939600	Strong transcription	Pancreas	Pancrea
45	chr19:41936800-41939800	Strong transcription	Adipose Nuclei	Adipose
46	chr19:41936800-41939800	Strong transcription	Placenta	Placenta
47	chr19:41936800-41939800	Strong transcription	Spleen	Spleen
48	chr19:41936800-41940000	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr19:41936800-41940400	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr19:41936800-41940600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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