Variant report

Variant	rs74077870
Chromosome Location	chr1:59279460-59279461
allele	A/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	EP300	chr1:59279404-59280149	T-47D	breast:	n/a	n/a
2	POLR2A	chr1:59279375-59282505	Hela-S3	cervix:	n/a	n/a
3	SIN3AK20	chr1:59279382-59282566	MCF-7	breast:	n/a	n/a
4	CHD2	chr1:59279400-59279589	HepG2	liver:	n/a	n/a
5	NR2F2	chr1:59279428-59280330	MCF-7	breast:	n/a	n/a
6	FOXA1	chr1:59279407-59279615	T-47D	breast:	n/a	n/a
7	RCOR1	chr1:59279439-59279699	HepG2	liver:	n/a	n/a
8	TFAP2C	chr1:59279430-59282455	Hela-S3	cervix:	n/a	chr1:59279720-59279735
9	ZNF143	chr1:59279332-59279551	H1-hESC	embryonic stem cell:	n/a	chr1:59279418-59279433 chr1:59279417-59279436
10	TFAP2A	chr1:59279363-59280398	Hela-S3	cervix:	n/a	chr1:59279720-59279735 chr1:59279721-59279732 chr1:59279721-59279732 chr1:59279721-59279732 chr1:59279721-59279732
11	RCOR1	chr1:59278366-59282759	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:59279129..59280859-chr1:59347455..59349368,2	K562	blood:
2	chr1:59279353..59283854-chr1:59287313..59291525,6	MCF-7	breast:
3	chr1:59245489..59255081-chr1:59277954..59283925,49	MCF-7	breast:
4	chr1:59279109..59280911-chr1:59291721..59294413,2	MCF-7	breast:
5	chr1:59243405..59253875-chr1:59275011..59289058,45	MCF-7	breast:
6	chr1:59279369..59282052-chr1:60171210..60173225,3	MCF-7	breast:
7	chr1:59279457..59282981-chr1:59283687..59286487,4	K562	blood:
8	chr1:59243458..59255133-chr1:59272031..59283720,29	K562	blood:
9	chr1:59279289..59281587-chr1:59349571..59351279,3	MCF-7	breast:
10	chr1:59279403..59281685-chr1:59758871..59761962,3	MCF-7	breast:
11	chr1:59279066..59281717-chr1:59892952..59895957,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272226	TF binding region
ENSG00000177606	Chromatin interaction
ENSG00000234807	Chromatin interaction

rs_ID	r²[population]
rs12116591	1.00[AFR][1000 genomes]
rs4647011	0.82[AFR][1000 genomes]
rs57251170	1.00[AFR][1000 genomes]
rs57263270	0.94[AFR][1000 genomes]
rs58128095	0.94[AFR][1000 genomes]
rs60346486	1.00[AFR][1000 genomes]
rs74077827	1.00[AFR][1000 genomes]
rs74077829	1.00[AFR][1000 genomes]
rs74077830	1.00[AFR][1000 genomes]
rs74077832	1.00[AFR][1000 genomes]
rs74077834	1.00[AFR][1000 genomes]
rs74077835	1.00[AFR][1000 genomes]
rs74077837	1.00[AFR][1000 genomes]
rs74077838	1.00[AFR][1000 genomes]
rs74077839	1.00[AFR][1000 genomes]
rs74077840	1.00[AFR][1000 genomes]
rs74077844	1.00[AFR][1000 genomes]
rs74077847	1.00[AFR][1000 genomes]
rs74077850	1.00[AFR][1000 genomes]
rs74077851	0.94[AFR][1000 genomes]
rs74077854	1.00[AFR][1000 genomes]
rs74077855	1.00[AFR][1000 genomes]
rs74077856	1.00[AFR][1000 genomes]
rs74077866	1.00[AFR][1000 genomes]
rs74077868	1.00[AFR][1000 genomes]
rs74077873	1.00[AFR][1000 genomes]
rs74078326	1.00[AFR][1000 genomes]
rs74078327	1.00[AFR][1000 genomes]
rs74079803	1.00[AFR][1000 genomes]
rs74079808	0.94[AFR][1000 genomes]
rs74079815	0.88[AFR][1000 genomes]

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59254000-59281000	Weak transcription	Brain Substantia Nigra	brain
2	chr1:59265000-59280400	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:59268600-59280400	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:59270200-59280000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:59273800-59279600	Enhancers	HepG2	liver
6	chr1:59274600-59279800	Enhancers	HMEC	breast
7	chr1:59274600-59280200	Enhancers	NHEK	skin
8	chr1:59274600-59281400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:59274800-59280000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:59274800-59280000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:59275200-59280600	Weak transcription	Fetal Brain Male	brain
12	chr1:59275400-59279800	Weak transcription	Liver	Liver
13	chr1:59275400-59280800	Weak transcription	Fetal Heart	heart
14	chr1:59275600-59279800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:59275600-59280400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:59275600-59280400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:59275600-59280400	Weak transcription	K562	blood
18	chr1:59275600-59280600	Weak transcription	NHDF-Ad	bronchial
19	chr1:59275800-59280200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:59276000-59279800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:59276000-59280400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:59276000-59280600	Weak transcription	HSMM	muscle
23	chr1:59276200-59280600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:59277000-59280200	Enhancers	Esophagus	oesophagus
25	chr1:59277200-59280200	Enhancers	Lung	lung
26	chr1:59277200-59280600	Enhancers	Pancreas	Pancrea
27	chr1:59277600-59281200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:59277800-59280000	Enhancers	Stomach Mucosa	stomach
29	chr1:59277800-59280800	Enhancers	Primary T cells fromperipheralblood	blood
30	chr1:59277800-59280800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr1:59277800-59281000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:59278000-59280000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr1:59278000-59280200	Enhancers	HUVEC	blood vessel
34	chr1:59278000-59280600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr1:59278000-59280800	Enhancers	Primary B cells from peripheral blood	blood
36	chr1:59278000-59280800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr1:59278000-59281000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr1:59278200-59279800	Enhancers	Colonic Mucosa	Colon
39	chr1:59278200-59279800	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr1:59278200-59280600	Enhancers	Primary B cells from cord blood	blood
41	chr1:59278200-59280800	Enhancers	Primary T cells from cord blood	blood
42	chr1:59278200-59280800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:59278200-59280800	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr1:59278200-59281000	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr1:59278200-59281000	Enhancers	Spleen	Spleen
46	chr1:59278400-59280000	Enhancers	Small Intestine	intestine
47	chr1:59278400-59280600	Enhancers	GM12878-XiMat	blood
48	chr1:59278400-59280800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr1:59278600-59279600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:59278600-59279600	Weak transcription	NHLF	lung

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