Variant report

Variant	rs73040104
Chromosome Location	chr1:172714631-172714632
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	RAD21	chr1:172714007-172714651	A549	lung:	n/a	chr1:172714278-172714297 chr1:172714283-172714293
2	IRF4	chr1:172714105-172714645	GM12878	blood:	n/a	n/a
3	RAD21	chr1:172713983-172714667	IMR90	lung:	n/a	chr1:172714278-172714297 chr1:172714283-172714293
4	POLR2A	chr1:172714122-172716050	HUVEC	blood vessel:	n/a	n/a
5	RAD21	chr1:172714097-172714672	MCF-7	breast:	n/a	chr1:172714278-172714297 chr1:172714283-172714293
6	RAD21	chr1:172713983-172714633	ECC-1	luminal epithelium:	n/a	chr1:172714278-172714297 chr1:172714283-172714293
7	RAD21	chr1:172713913-172714730	SK-N-SH	brain:	n/a	chr1:172714278-172714297 chr1:172714283-172714293
8	MAFK	chr1:172714092-172714639	K562	blood:	n/a	n/a
9	RAD21	chr1:172714068-172714644	GM12878	blood:	n/a	chr1:172714278-172714297 chr1:172714283-172714293
10	BATF	chr1:172714087-172714653	GM12878	blood:	n/a	n/a
11	BATF	chr1:172714211-172714655	GM12878	blood:	n/a	n/a
12	RUNX3	chr1:172714080-172714749	GM12878	blood:	n/a	n/a
13	CTCF	chr1:172713798-172714751	SK-N-SH	brain:	n/a	chr1:172714279-172714300 chr1:172714282-172714292 chr1:172714277-172714295 chr1:172714280-172714293
14	CTCF	chr1:172714067-172714723	K562	blood:	n/a	chr1:172714279-172714300 chr1:172714282-172714292 chr1:172714277-172714295 chr1:172714280-172714293
15	POLR2A	chr1:172714334-172714641	MCF10A-Er-Src	breast:	n/a	n/a
16	RUNX3	chr1:172714099-172714719	GM12878	blood:	n/a	n/a
17	SMC3	chr1:172714091-172714700	GM12878	blood:	n/a	chr1:172714279-172714293 chr1:172714283-172714293
18	CTCF	chr1:172713830-172714910	A549	lung:	n/a	chr1:172714279-172714300 chr1:172714282-172714292 chr1:172714277-172714295 chr1:172714280-172714293
19	NFIC	chr1:172714117-172714701	GM12878	blood:	n/a	n/a
20	RAD21	chr1:172713876-172714728	HCT-116	colon:	n/a	chr1:172714278-172714297 chr1:172714283-172714293 chr1:172713908-172713917
21	CTCF	chr1:172713838-172714675	HCT-116	colon:	n/a	chr1:172714279-172714300 chr1:172714282-172714292 chr1:172714277-172714295 chr1:172714280-172714293
22	SMC3	chr1:172714062-172714650	Hela-S3	cervix:	n/a	chr1:172714279-172714293 chr1:172714283-172714293
23	RAD21	chr1:172713907-172714736	A549	lung:	n/a	chr1:172714278-172714297 chr1:172714283-172714293 chr1:172713908-172713917
24	RELA	chr1:172714076-172714666	GM19099	blood:	n/a	n/a
25	MTA3	chr1:172713977-172714664	GM12878	blood:	n/a	n/a
26	FOXM1	chr1:172714024-172714684	GM12878	blood:	n/a	n/a
27	RAD21	chr1:172713824-172714884	HCT-116	colon:	n/a	chr1:172714278-172714297 chr1:172714283-172714293 chr1:172713908-172713917
28	POLR2A	chr1:172714170-172715918	HUVEC	blood vessel:	n/a	n/a
29	NFIC	chr1:172714030-172714718	GM12878	blood:	n/a	n/a
30	SMC3	chr1:172713842-172716022	SK-N-SH	brain:	n/a	chr1:172714279-172714293 chr1:172715743-172715757 chr1:172715753-172715760 chr1:172714283-172714293

No.	Distal block	Cell Line	Cell type
1	chr1:172714289..172714906-chr1:172794894..172795766,2	MCF-7	breast:
2	chr1:172714187..172714696-chr1:173400170..173400948,2	MCF-7	breast:
3	chr1:172713789..172715067-chr1:173171294..173172118,3	MCF-7	breast:
4	chr1:172410499..172413475-chr1:172711995..172715469,3	K562	blood:
5	chr1:172713793..172714785-chr1:172792000..172792503,2	MCF-7	breast:
6	chr1:172713809..172714684-chr1:173224144..173224836,2	K562	blood:
7	chr1:172713820..172715109-chr1:173171136..173172184,7	MCF-7	breast:
8	chr1:172714218..172714771-chr1:173171193..173171773,3	K562	blood:
9	chr1:172713852..172714797-chr1:173389258..173389975,2	MCF-7	breast:

Variant related genes	Relation type
SLC25A38P1	TF binding region
ENSG00000135845	Chromatin interaction

rs_ID	r²[population]
rs10912498	1.00[EUR][1000 genomes]
rs12078276	1.00[EUR][1000 genomes]
rs12097832	1.00[EUR][1000 genomes]
rs16844895	1.00[EUR][1000 genomes]
rs58897053	1.00[EUR][1000 genomes]
rs73038093	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73038096	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73038100	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74124383	1.00[EUR][1000 genomes]
rs74124384	1.00[EUR][1000 genomes]
rs7519689	1.00[EUR][1000 genomes]

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172712000-172716400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:172712000-172716400	Enhancers	HMEC	breast
3	chr1:172712000-172717000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:172712200-172716400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:172712800-172715200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:172713200-172715800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:172713200-172716000	Enhancers	NHEK	skin
8	chr1:172713800-172715200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr1:172713800-172716400	Enhancers	NHLF	lung
10	chr1:172714000-172714800	Enhancers	GM12878-XiMat	blood
11	chr1:172714000-172715200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:172714000-172715200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:172714000-172715200	Enhancers	Primary T cells from cord blood	blood
14	chr1:172714000-172715200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:172714000-172715200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:172714000-172715200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:172714000-172715200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr1:172714000-172715200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:172714000-172715200	Enhancers	HUVEC	blood vessel
20	chr1:172714000-172715200	Enhancers	NH-A	brain
21	chr1:172714000-172715400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr1:172714000-172715600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:172714000-172715600	Enhancers	Fetal Lung	lung
24	chr1:172714000-172716000	Enhancers	HepG2	liver
25	chr1:172714000-172716400	Enhancers	Adipose Nuclei	Adipose
26	chr1:172714000-172716400	Enhancers	Placenta	Placenta
27	chr1:172714000-172716400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr1:172714000-172716400	Enhancers	Stomach Mucosa	stomach
29	chr1:172714000-172716400	Enhancers	HSMMtube	muscle
30	chr1:172714000-172716400	Enhancers	K562	blood
31	chr1:172714000-172716400	Enhancers	Osteobl	bone
32	chr1:172714000-172716600	Enhancers	Primary B cells from peripheral blood	blood
33	chr1:172714000-172716600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:172714000-172716600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:172714000-172716600	Enhancers	Duodenum Mucosa	Duodenum
36	chr1:172714000-172716600	Enhancers	HSMM	muscle
37	chr1:172714000-172716800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:172714000-172717000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr1:172714000-172717000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:172714000-172717800	Enhancers	Primary T cells fromperipheralblood	blood
41	chr1:172714200-172715000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:172714200-172716400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:172714200-172716400	Enhancers	NHDF-Ad	bronchial
44	chr1:172714200-172716600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr1:172714200-172716600	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr1:172714200-172716800	Enhancers	Primary B cells from cord blood	blood
47	chr1:172714400-172715400	Enhancers	Liver	Liver
48	chr1:172714400-172715400	Flanking Active TSS	Dnd41	blood
49	chr1:172714400-172715600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:172714400-172715600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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