Variant report

Variant	rs73611041
Chromosome Location	chr6:149640191-149640192
allele	A/G
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	FOS	chr6:149640157-149641086	MCF10A-Er-Src	breast:	n/a	chr6:149641021-149641031 chr6:149641021-149641031 chr6:149641021-149641031 chr6:149641021-149641030 chr6:149641021-149641031
2	WRNIP1	chr6:149639658-149640214	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:149639551-149640750	GM12891	blood:	n/a	n/a
4	CHD1	chr6:149639695-149640599	GM12878	blood:	n/a	n/a
5	CUX1	chr6:149639997-149640975	GM12878	blood:	n/a	chr6:149640315-149640329
6	MAZ	chr6:149637726-149640212	K562	blood:	n/a	chr6:149639590-149639599 chr6:149639537-149639547
7	NFATC1	chr6:149639550-149641270	GM12878	blood:	n/a	n/a
8	BCLAF1	chr6:149639540-149640584	GM12878	blood:	n/a	chr6:149639598-149639607 chr6:149640392-149640401 chr6:149639540-149639549 chr6:149640035-149640042
9	ZNF143	chr6:149639165-149640192	GM12878	blood:	n/a	chr6:149639408-149639426 chr6:149639202-149639220
10	EP300	chr6:149640037-149640868	GM12878	blood:	n/a	chr6:149640718-149640727 chr6:149640277-149640286 chr6:149640392-149640406
11	POLR2A	chr6:149639637-149640444	GM12891	blood:	n/a	n/a
12	POLR2A	chr6:149639531-149640800	GM12878	blood:	n/a	n/a
13	CEBPB	chr6:149639758-149640526	Hela-S3	cervix:	n/a	chr6:149640324-149640335 chr6:149640325-149640336 chr6:149640324-149640337
14	POLR2A	chr6:149639863-149640579	MCF10A-Er-Src	breast:	n/a	n/a
15	EP300	chr6:149639917-149640269	GM12878	blood:	n/a	n/a
16	CEBPB	chr6:149640170-149640505	HepG2	liver:	n/a	chr6:149640324-149640335 chr6:149640325-149640336 chr6:149640324-149640337
17	YY1	chr6:149639996-149640350	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:149637876-149640263	GM18505	blood:	n/a	n/a
19	POLR2A	chr6:149637728-149640345	GM12878	blood:	n/a	n/a
20	ATF2	chr6:149639222-149640982	GM12878	blood:	n/a	n/a
21	STAT3	chr6:149640163-149640342	MCF10A-Er-Src	breast:	n/a	chr6:149640279-149640287
22	TEAD4	chr6:149639645-149640310	K562	blood:	n/a	n/a
23	POLR2A	chr6:149637775-149640831	GM12892	blood:	n/a	n/a
24	NFIC	chr6:149639135-149641240	GM12878	blood:	n/a	n/a
25	RELA	chr6:149639613-149641120	GM12878	blood:	n/a	n/a
26	RUNX3	chr6:149639382-149640487	GM12878	blood:	n/a	n/a
27	CEBPB	chr6:149640084-149640531	A549	lung:	n/a	chr6:149640324-149640335 chr6:149640325-149640336 chr6:149640324-149640337
28	FOXM1	chr6:149639523-149640979	GM12878	blood:	n/a	n/a
29	TBL1XR1	chr6:149639174-149640585	GM12878	blood:	n/a	n/a
30	MAZ	chr6:149637726-149640418	GM12878	blood:	n/a	chr6:149639590-149639599 chr6:149639537-149639547
31	ATF2	chr6:149640165-149641065	GM12878	blood:	n/a	n/a
32	MYC	chr6:149640164-149640432	K562	blood:	n/a	n/a
33	SIN3A	chr6:149639001-149640277	H1-hESC	embryonic stem cell:	n/a	chr6:149639007-149639018 chr6:149639236-149639247 chr6:149639444-149639457
34	SPI1	chr6:149640139-149640573	HL-60	blood:	n/a	n/a
35	MYC	chr6:149640060-149640993	MCF10A-Er-Src	breast:	n/a	n/a
36	CEBPB	chr6:149640146-149640486	IMR90	lung:	n/a	chr6:149640324-149640335 chr6:149640325-149640336 chr6:149640324-149640337
37	YY1	chr6:149640020-149640366	GM12892	blood:	n/a	n/a
38	TAF1	chr6:149639642-149640391	GM12878	blood:	n/a	n/a
39	RCOR1	chr6:149639637-149640335	K562	blood:	n/a	n/a
40	YY1	chr6:149639982-149640191	GM12878	blood:	n/a	n/a
41	STAT3	chr6:149640130-149640861	MCF10A-Er-Src	breast:	n/a	chr6:149640381-149640392 chr6:149640279-149640287
42	MYC	chr6:149639991-149640539	MCF10A-Er-Src	breast:	n/a	n/a
43	EP300	chr6:149639723-149640944	GM12878	blood:	n/a	chr6:149640718-149640727 chr6:149640277-149640286 chr6:149640392-149640406 chr6:149640894-149640908
44	POLR2A	chr6:149637807-149641059	GM12878	blood:	n/a	n/a
45	MTA3	chr6:149639052-149640814	GM12878	blood:	n/a	n/a
46	IRF1	chr6:149639734-149640587	K562	blood:	n/a	chr6:149640380-149640391 chr6:149640391-149640401 chr6:149640378-149640392 chr6:149640381-149640392 chr6:149640381-149640394 chr6:149640277-149640293 chr6:149640381-149640393 chr6:149640382-149640392 chr6:149640382-149640396 chr6:149639979-149639993 chr6:149639980-149639993
47	TBP	chr6:149639694-149641046	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:149639485-149640382	GM12891	blood:	n/a	n/a
49	CEBPB	chr6:149640114-149640532	MCF-7	breast:	n/a	chr6:149640324-149640335 chr6:149640325-149640336 chr6:149640324-149640337
50	POLR2A	chr6:149639545-149640449	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:149538892..149540721-chr6:149638148..149641111,2	MCF-7	breast:
2	chr6:149638315..149640262-chr6:149865472..149868393,2	K562	blood:
3	chr6:149351823..149355344-chr6:149638842..149641991,4	MCF-7	breast:
4	chr6:149625453..149629470-chr6:149636058..149640474,5	MCF-7	breast:

Variant related genes	Relation type
TAB2	TF binding region
ENSG00000216265	Chromatin interaction
ENSG00000131013	Chromatin interaction
ENSG00000055208	Chromatin interaction
ENSG00000236591	Chromatin interaction
ENSG00000228408	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs34029621	1.00[AFR][1000 genomes]
rs35852678	1.00[AFR][1000 genomes]
rs59632689	1.00[AFR][1000 genomes]
rs61090105	1.00[AFR][1000 genomes]
rs73611045	1.00[AFR][1000 genomes]
rs73613022	1.00[AFR][1000 genomes]
rs73613025	1.00[AFR][1000 genomes]
rs73613039	1.00[AFR][1000 genomes]
rs73613054	1.00[AFR][1000 genomes]
rs73613059	1.00[AFR][1000 genomes]
rs73613069	1.00[AFR][1000 genomes]
rs73613071	1.00[AFR][1000 genomes]
rs73613086	1.00[AFR][1000 genomes]
rs73614909	1.00[AFR][1000 genomes]
rs73615957	1.00[AFR][1000 genomes]
rs73617919	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024776	chr6:149398652-149654593	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1015360	chr6:149609804-149649982	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1024106	chr6:149622349-149745053	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3377797	chr6:149637284-149640632	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
5	esv3365966	chr6:149637634-149640707	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
6	esv3389424	chr6:149638059-149640257	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149637200-149640200	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr6:149637200-149640200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr6:149637200-149640400	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr6:149637200-149640400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:149637200-149640800	Active TSS	A549	lung
6	chr6:149637200-149641000	Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr6:149637400-149640200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:149637400-149640400	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr6:149637400-149640400	Active TSS	Right Ventricle	heart
10	chr6:149637400-149640400	Active TSS	Hela-S3	cervix
11	chr6:149637400-149640600	Active TSS	NHDF-Ad	bronchial
12	chr6:149637400-149640800	Active TSS	H1 Cell Line	embryonic stem cell
13	chr6:149637400-149640800	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr6:149637400-149640800	Active TSS	Brain Cingulate Gyrus	brain
15	chr6:149637400-149640800	Active TSS	Fetal Stomach	stomach
16	chr6:149637400-149641000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:149637400-149641200	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr6:149637400-149641200	Active TSS	Brain Angular Gyrus	brain
19	chr6:149637400-149641200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:149637400-149641200	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr6:149637400-149641200	Active TSS	Stomach Smooth Muscle	stomach
22	chr6:149637400-149641200	Active TSS	HSMMtube	muscle
23	chr6:149637400-149641200	Active TSS	NH-A	brain
24	chr6:149637400-149641600	Active TSS	Brain Substantia Nigra	brain
25	chr6:149637400-149642000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr6:149637400-149642600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr6:149637600-149640200	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr6:149637600-149640200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:149637600-149640200	Active TSS	Brain Germinal Matrix	brain
30	chr6:149637600-149640200	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr6:149637600-149640400	Active TSS	H9 Cell Line	embryonic stem cell
32	chr6:149637600-149640400	Active TSS	Fetal Intestine Small	intestine
33	chr6:149637600-149640400	Active TSS	Fetal Muscle Trunk	muscle
34	chr6:149637600-149640600	Active TSS	Colonic Mucosa	Colon
35	chr6:149637600-149640800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:149637600-149640800	Active TSS	Brain Hippocampus Middle	brain
37	chr6:149637600-149640800	Active TSS	Colon Smooth Muscle	Colon
38	chr6:149637600-149640800	Active TSS	Ovary	ovary
39	chr6:149637600-149640800	Active TSS	Rectal Smooth Muscle	rectum
40	chr6:149637600-149640800	Active TSS	HSMM	muscle
41	chr6:149637600-149641000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr6:149637600-149641000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:149637600-149641000	Active TSS	Placenta	Placenta
44	chr6:149637600-149641200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:149637600-149641200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:149637600-149641200	Active TSS	Aorta	Aorta
47	chr6:149637600-149641200	Active TSS	Fetal Kidney	kidney
48	chr6:149637600-149641200	Active TSS	NHLF	lung
49	chr6:149637600-149641400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:149637600-149641400	Active TSS	Brain Inferior Temporal Lobe	brain

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