Variant report

Variant	rs11574664
Chromosome Location	chr17:38718429-38718430
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	chr17:38715171-38721961	GM12891	blood:	n/a	n/a
2	PML	chr17:38715283-38722199	GM12878	blood:	n/a	chr17:38717252-38717261 chr17:38717316-38717324 chr17:38721090-38721098
3	CTCF	chr17:38718300-38718450	K562	blood:	n/a	n/a
4	NFATC1	chr17:38715207-38722102	GM12878	blood:	n/a	n/a
5	CTCF	chr17:38718283-38718430	GM10248	blood:	n/a	n/a
6	CTCF	chr17:38718380-38718530	HRPEpiC	eye:	n/a	n/a
7	CTCF	chr17:38718280-38718430	GM12873	blood:	n/a	n/a
8	CTCF	chr17:38718290-38718446	MCF-7	breast:	n/a	n/a
9	CTCF	chr17:38718280-38718430	AG10803	skin:	n/a	n/a
10	POLR2A	chr17:38715234-38721942	GM12892	blood:	n/a	n/a
11	CTCF	chr17:38718300-38718450	HMEC	breast:	n/a	n/a
12	CTCF	chr17:38718320-38718470	HepG2	liver:	n/a	n/a
13	CUX1	chr17:38716556-38718703	GM12878	blood:	n/a	chr17:38717799-38717813
14	CTCF	chr17:38718300-38718450	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr17:38718300-38718450	HCPEpiC	choroid plexus:	n/a	n/a
16	EBF1	chr17:38717040-38718541	GM12878	blood:	n/a	chr17:38718274-38718285
17	CTCF	chr17:38718309-38718434	MCF-7	breast:	n/a	n/a
18	RAD21	chr17:38718164-38718506	GM12878	blood:	n/a	n/a
19	CTCF	chr17:38718280-38718430	HCT-116	colon:	n/a	n/a
20	RUNX3	chr17:38716180-38722010	GM12878	blood:	n/a	n/a
21	POLR2A	chr17:38714290-38722243	GM12892	blood:	n/a	n/a
22	ATF2	chr17:38716237-38718655	GM12878	blood:	n/a	n/a
23	JUN	chr17:38716127-38718567	K562	blood:	n/a	chr17:38717251-38717259 chr17:38717679-38717691 chr17:38716234-38716243
24	RELA	chr17:38717085-38718768	GM12892	blood:	n/a	n/a
25	CTCF	chr17:38718300-38718450	HEK293	kidney:	n/a	n/a
26	EP300	chr17:38716960-38718783	GM12878	blood:	n/a	chr17:38718044-38718058
27	MEF2A	chr17:38716947-38718486	GM12878	blood:	n/a	chr17:38717251-38717259
28	POU2F2	chr17:38718102-38718573	GM12878	blood:	n/a	n/a
29	CTCF	chr17:38718340-38718490	HCM	heart:	n/a	n/a
30	POU2F2	chr17:38716296-38720334	GM12891	blood:	n/a	chr17:38719698-38719710 chr17:38718988-38719000 chr17:38717807-38717820
31	EP300	chr17:38716503-38718737	GM12878	blood:	n/a	chr17:38718044-38718058
32	CTCF	chr17:38718285-38718470	GM12892	blood:	n/a	n/a
33	MXI1	chr17:38715902-38722146	GM12878	blood:	n/a	n/a
34	ZNF143	chr17:38718176-38718573	GM12878	blood:	n/a	n/a
35	PAX5	chr17:38718081-38719190	GM12878	blood:	n/a	n/a
36	SP1	chr17:38716446-38718502	GM12878	blood:	n/a	chr17:38717472-38717481
37	STAT1	chr17:38716212-38719062	GM12878	blood:	n/a	chr17:38716748-38716768
38	RELA	chr17:38716441-38718660	GM19193	blood:	n/a	n/a
39	POLR2A	chr17:38714368-38722096	GM12891	blood:	n/a	n/a
40	CTCF	chr17:38718247-38718468	Spleen_OC	spleen:	n/a	n/a
41	IRF4	chr17:38718012-38718664	GM12878	blood:	n/a	n/a
42	YY1	chr17:38718211-38718681	GM12891	blood:	n/a	n/a
43	POLR2A	chr17:38703515-38722163	GM12878	blood:	n/a	n/a
44	SP1	chr17:38718089-38718588	GM12878	blood:	n/a	n/a
45	POLR2A	chr17:38705652-38722345	GM12892	blood:	n/a	n/a
46	PAX5	chr17:38718031-38720317	GM12878	blood:	n/a	n/a
47	CTCF	chr17:38718320-38718470	HAc	cerebellar:	n/a	n/a
48	CTCF	chr17:38718280-38718430	HBMEC	blood vessel:	n/a	n/a
49	POLR2A	chr17:38715342-38722047	GM18505	blood:	n/a	n/a
50	CTCF	chr17:38718340-38718490	SAEC	small airway:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:38475685..38480356-chr17:38717204..38721224,4	MCF-7	breast:
2	chr17:38717294..38719047-chr17:38720338..38722156,2	MCF-7	breast:
3	chr17:38717181..38719861-chr17:38721062..38722966,4	MCF-7	breast:
4	chr17:38717515..38719359-chr17:38729143..38731017,2	MCF-7	breast:
5	chr17:38598881..38602329-chr17:38713858..38720847,8	MCF-7	breast:
6	chr17:38718371..38719906-chr17:38760892..38763624,2	MCF-7	breast:
7	chr17:38654631..38657600-chr17:38717597..38719399,2	MCF-7	breast:
8	chr17:38717309..38719354-chr17:38719418..38721060,2	MCF-7	breast:

Variant related genes	Relation type
CCR7	TF binding region
ENSG00000141753	Chromatin interaction
ENSG00000126353	Chromatin interaction
ENSG00000131759	Chromatin interaction

rs_ID	r²[population]
rs11657772	1.00[AMR][1000 genomes]
rs12936773	1.00[AMR][1000 genomes]
rs9894493	1.00[AMR][1000 genomes]

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38713800-38719600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr17:38714400-38721000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:38715000-38721400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
4	chr17:38715400-38721800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
5	chr17:38715600-38721600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
6	chr17:38716000-38719600	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
7	chr17:38716000-38720600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
8	chr17:38716200-38718600	Enhancers	A549	lung
9	chr17:38716200-38720800	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr17:38716400-38718600	Flanking Active TSS	Fetal Thymus	thymus
11	chr17:38716400-38720000	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
12	chr17:38716400-38722000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:38716600-38718600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr17:38716600-38719600	Active TSS	Primary T cells from cord blood	blood
15	chr17:38716600-38720000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr17:38716600-38720800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr17:38716600-38721400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr17:38717000-38719000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr17:38717000-38719600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr17:38717000-38720600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr17:38717000-38721000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr17:38717000-38721000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr17:38717000-38721400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr17:38717000-38721800	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr17:38717200-38718600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr17:38717200-38720400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr17:38717200-38720600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr17:38717200-38721000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:38717200-38721000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr17:38717400-38718800	Enhancers	Duodenum Mucosa	Duodenum
31	chr17:38717400-38719600	Flanking Active TSS	GM12878-XiMat	blood
32	chr17:38717600-38718600	Weak transcription	Esophagus	oesophagus
33	chr17:38717600-38718600	Bivalent Enhancer	HepG2	liver
34	chr17:38717600-38719000	Weak transcription	Lung	lung
35	chr17:38717600-38721000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr17:38717800-38719000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr17:38717800-38719200	Enhancers	Adipose Nuclei	Adipose
38	chr17:38717800-38719600	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
39	chr17:38717800-38720600	Active TSS	Thymus	Thymus
40	chr17:38717800-38721000	Weak transcription	Spleen	Spleen
41	chr17:38717800-38721000	Enhancers	Dnd41	blood
42	chr17:38717800-38721600	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr17:38718200-38718600	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr17:38718200-38718600	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr17:38718200-38719000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr17:38718200-38720800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr17:38718200-38721600	Active TSS	Small Intestine	intestine
48	chr17:38718400-38718600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr17:38718400-38718600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr17:38718400-38718800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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