Variant report

Variant	rs11078949
Chromosome Location	chr17:38719135-38719136
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	NFATC1	chr17:38715207-38722102	GM12878	blood:	n/a	n/a
4	POLR2A	chr17:38715234-38721942	GM12892	blood:	n/a	n/a
5	BATF	chr17:38719116-38720280	GM12878	blood:	n/a	n/a
6	RUNX3	chr17:38716180-38722010	GM12878	blood:	n/a	n/a
7	POLR2A	chr17:38714290-38722243	GM12892	blood:	n/a	n/a
8	ATF2	chr17:38719106-38722019	GM12878	blood:	n/a	chr17:38720320-38720331
9	POU2F2	chr17:38716296-38720334	GM12891	blood:	n/a	chr17:38719698-38719710 chr17:38718988-38719000 chr17:38717807-38717820
10	MXI1	chr17:38715902-38722146	GM12878	blood:	n/a	n/a
11	PAX5	chr17:38718081-38719190	GM12878	blood:	n/a	n/a
12	POLR2A	chr17:38714368-38722096	GM12891	blood:	n/a	n/a
13	CEBPB	chr17:38718864-38720181	GM12878	blood:	n/a	chr17:38719664-38719677
14	SMC3	chr17:38719096-38720205	GM12878	blood:	n/a	n/a
15	POLR2A	chr17:38703515-38722163	GM12878	blood:	n/a	n/a
16	POLR2A	chr17:38705652-38722345	GM12892	blood:	n/a	n/a
17	PAX5	chr17:38718031-38720317	GM12878	blood:	n/a	n/a
18	POLR2A	chr17:38715342-38722047	GM18505	blood:	n/a	n/a
19	EBF1	chr17:38718877-38719329	GM12878	blood:	n/a	n/a
20	YY1	chr17:38719025-38720098	GM12892	blood:	n/a	n/a
21	STAT5A	chr17:38716392-38721991	GM12878	blood:	n/a	chr17:38721772-38721784 chr17:38716748-38716768 chr17:38718495-38718510 chr17:38721777-38721789
22	POLR2A	chr17:38704735-38722182	GM12878	blood:	n/a	n/a
23	BRCA1	chr17:38718994-38719632	GM12878	blood:	n/a	chr17:38719380-38719387
24	POLR2A	chr17:38703275-38722209	GM12891	blood:	n/a	n/a
25	FOXM1	chr17:38716206-38722049	GM12878	blood:	n/a	n/a
26	MAZ	chr17:38716448-38722616	GM12878	blood:	n/a	chr17:38721816-38721825 chr17:38721781-38721791 chr17:38717251-38717260
27	MTA3	chr17:38715239-38722271	GM12878	blood:	n/a	n/a
28	POLR2A	chr17:38716264-38722117	GM12878	blood:	n/a	n/a
29	WRNIP1	chr17:38715633-38722152	GM12878	blood:	n/a	n/a
30	RCOR1	chr17:38716188-38719166	GM12878	blood:	n/a	n/a
31	CHD1	chr17:38715457-38722188	GM12878	blood:	n/a	chr17:38717971-38717981 chr17:38721797-38721807
32	BCLAF1	chr17:38715500-38721853	GM12878	blood:	n/a	chr17:38721802-38721815 chr17:38717250-38717259
33	RUNX3	chr17:38716195-38722204	GM12878	blood:	n/a	n/a
34	POU2F2	chr17:38716439-38721780	GM12878	blood:	n/a	chr17:38720367-38720379 chr17:38719698-38719710 chr17:38721188-38721201 chr17:38718988-38719000 chr17:38720416-38720437 chr17:38717807-38717820
35	CUX1	chr17:38718927-38719703	GM12878	blood:	n/a	n/a
36	POLR2A	chr17:38714959-38721885	GM19193	blood:	n/a	n/a
37	TAF1	chr17:38718928-38719304	GM12891	blood:	n/a	n/a
38	POLR2A	chr17:38705558-38722200	GM12892	blood:	n/a	n/a
39	POLR2A	chr17:38707021-38722718	GM12878	blood:	n/a	n/a
40	STAT3	chr17:38716343-38722161	GM12878	blood:	n/a	chr17:38721772-38721784 chr17:38716748-38716768 chr17:38721777-38721789
41	BHLHE40	chr17:38716334-38722108	GM12878	blood:	n/a	chr17:38720812-38720828 chr17:38717054-38717070 chr17:38720943-38720959
42	FOXM1	chr17:38716321-38720389	GM12878	blood:	n/a	n/a
43	STAT5A	chr17:38715688-38721942	GM12878	blood:	n/a	chr17:38721772-38721784 chr17:38716748-38716768 chr17:38718495-38718510 chr17:38721777-38721789
44	POLR2A	chr17:38706374-38721894	GM12891	blood:	n/a	n/a
45	CHD2	chr17:38716440-38722154	GM12878	blood:	n/a	chr17:38717971-38717981 chr17:38721797-38721807
46	PAX5	chr17:38718968-38722191	GM12878	blood:	n/a	chr17:38721727-38721736
47	POLR2A	chr17:38717849-38721915	GM12878	blood:	n/a	n/a
48	POLR2A	chr17:38716189-38722036	GM15510	blood:	n/a	n/a
49	TBL1XR1	chr17:38716103-38722101	GM12878	blood:	n/a	n/a
50	POLR2A	chr17:38716183-38722097	GM12878	blood:	n/a	n/a

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

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

rs_ID	r²[population]
rs11657772	1.00[EUR][1000 genomes]
rs12936773	1.00[EUR][1000 genomes]
rs3136693	1.00[EUR][1000 genomes]
rs34733633	1.00[EUR][1000 genomes]
rs35935440	1.00[EUR][1000 genomes]
rs35941326	1.00[EUR][1000 genomes]
rs57393313	1.00[EUR][1000 genomes]
rs58281977	1.00[EUR][1000 genomes]
rs59333312	1.00[EUR][1000 genomes]
rs60355701	1.00[EUR][1000 genomes]
rs61289871	1.00[EUR][1000 genomes]
rs7207004	1.00[EUR][1000 genomes]
rs7225036	1.00[EUR][1000 genomes]
rs73293410	1.00[EUR][1000 genomes]
rs73293414	1.00[EUR][1000 genomes]
rs73297427	1.00[EUR][1000 genomes]
rs73983088	1.00[EUR][1000 genomes]
rs73983091	1.00[EUR][1000 genomes]
rs8082488	1.00[EUR][1000 genomes]

Chromatin state (count:47 , 50 per page) page: 1

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	chr17:38716200-38720800	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr17:38716400-38720000	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
10	chr17:38716400-38722000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr17:38716600-38719600	Active TSS	Primary T cells from cord blood	blood
12	chr17:38716600-38720000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:38716600-38720800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr17:38716600-38721400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr17:38717000-38719600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr17:38717000-38720600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr17:38717000-38721000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr17:38717000-38721000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr17:38717000-38721400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr17:38717000-38721800	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr17:38717200-38720400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr17:38717200-38720600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr17:38717200-38721000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:38717200-38721000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr17:38717400-38719600	Flanking Active TSS	GM12878-XiMat	blood
26	chr17:38717600-38721000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr17:38717800-38719200	Enhancers	Adipose Nuclei	Adipose
28	chr17:38717800-38719600	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
29	chr17:38717800-38720600	Active TSS	Thymus	Thymus
30	chr17:38717800-38721000	Weak transcription	Spleen	Spleen
31	chr17:38717800-38721000	Enhancers	Dnd41	blood
32	chr17:38717800-38721600	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr17:38718200-38720800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr17:38718200-38721600	Active TSS	Small Intestine	intestine
35	chr17:38718400-38722200	Active TSS	Rectal Smooth Muscle	rectum
36	chr17:38718600-38719200	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
37	chr17:38718600-38719400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr17:38718600-38719600	Enhancers	Esophagus	oesophagus
39	chr17:38718600-38719600	Active TSS	Fetal Thymus	thymus
40	chr17:38718600-38721600	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
41	chr17:38719000-38719200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr17:38719000-38719200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr17:38719000-38719200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
44	chr17:38719000-38719400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr17:38719000-38719400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr17:38719000-38719600	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
47	chr17:38719000-38720200	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood

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