Variant report

Variant	rs11966919
Chromosome Location	chr6:163841466-163841467
allele	C/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	FOXA2	chr6:163841325-163841556	HepG2	liver:	n/a	chr6:163841439-163841451 chr6:163841429-163841441
2	ZNF384	chr6:163840852-163841604	GM12878	blood:	n/a	n/a
3	IRF1	chr6:163839808-163842261	K562	blood:	n/a	chr6:163841242-163841253 chr6:163840120-163840134 chr6:163841032-163841046 chr6:163840123-163840136 chr6:163841027-163841047 chr6:163841031-163841045 chr6:163840282-163840292 chr6:163842105-163842118 chr6:163840433-163840449 chr6:163840123-163840134 chr6:163840124-163840134 chr6:163842103-163842117 chr6:163841033-163841046 chr6:163840278-163840292 chr6:163842107-163842121 chr6:163841029-163841046 chr6:163840124-163840138 chr6:163841033-163841047 chr6:163842107-163842117
4	E2F4	chr6:163841058-163841468	MCF10A-Er-Src	breast:	n/a	n/a
5	ARID3A	chr6:163839394-163841682	K562	blood:	n/a	chr6:163840686-163840702
6	CTCF	chr6:163841409-163841487	Spleen_OC	spleen:	n/a	n/a
7	BACH1	chr6:163841458-163841471	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAFK	chr6:163841438-163841698	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:163840864..163843794-chr6:163863418..163865440,3	K562	blood:
2	chr6:163838995..163843341-chr6:163850269..163853237,5	K562	blood:
3	chr6:163841069..163843300-chr6:163990563..163993244,2	K562	blood:
4	chr6:163840085..163841837-chr6:163858856..163861674,2	MCF-7	breast:
5	chr6:163602182..163604039-chr6:163839596..163841553,2	MCF-7	breast:

Variant related genes	Relation type
QKI	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10484571	1.00[AMR][1000 genomes]
rs10484572	1.00[AMR][1000 genomes]
rs10484573	1.00[AMR][1000 genomes]
rs11962850	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11964510	1.00[AMR][1000 genomes]
rs11964910	1.00[AMR][1000 genomes]
rs11965425	0.85[AFR][1000 genomes]
rs11965709	1.00[AMR][1000 genomes]
rs11966710	1.00[AMR][1000 genomes]
rs11966885	1.00[AMR][1000 genomes]
rs11966922	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11966958	1.00[AMR][1000 genomes]
rs11969530	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11970766	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888837	1.00[AMR][1000 genomes]
rs16895001	1.00[AMR][1000 genomes]
rs16895012	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895056	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895066	1.00[AMR][1000 genomes]
rs16895078	1.00[AMR][1000 genomes]
rs16895118	1.00[AMR][1000 genomes]
rs16895125	1.00[AMR][1000 genomes]
rs16895139	1.00[AMR][1000 genomes]
rs3846780	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3903714	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56702350	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57292071	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57394768	1.00[AMR][1000 genomes]
rs57952819	1.00[AMR][1000 genomes]
rs59845233	1.00[AMR][1000 genomes]
rs60965967	1.00[AMR][1000 genomes]
rs61306342	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62428365	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6937286	1.00[AMR][1000 genomes]
rs73784410	1.00[AMR][1000 genomes]
rs73784416	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73787643	1.00[AMR][1000 genomes]
rs73787648	1.00[AMR][1000 genomes]
rs73787650	1.00[AMR][1000 genomes]
rs7754815	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7755028	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1797109	chr6:163834147-163908115	Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163833000-163843400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr6:163833200-163842000	Active TSS	HSMMtube	muscle
3	chr6:163833400-163843600	Active TSS	Right Ventricle	heart
4	chr6:163833600-163842400	Active TSS	Psoas Muscle	Psoas
5	chr6:163833600-163843000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:163833800-163841600	Active TSS	Ovary	ovary
7	chr6:163835000-163841600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:163836200-163843400	Active TSS	Brain Angular Gyrus	brain
9	chr6:163837000-163843400	Active TSS	Right Atrium	heart
10	chr6:163837400-163857200	Weak transcription	Spleen	Spleen
11	chr6:163837800-163842000	Active TSS	Brain Cingulate Gyrus	brain
12	chr6:163837800-163842200	Active TSS	Brain Hippocampus Middle	brain
13	chr6:163837800-163843400	Weak transcription	Gastric	stomach
14	chr6:163837800-163851000	Weak transcription	Small Intestine	intestine
15	chr6:163838000-163841600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr6:163838000-163841800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr6:163838000-163841800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:163838000-163842000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr6:163838000-163843400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:163838000-163843400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:163838000-163843600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr6:163838000-163843600	Weak transcription	Esophagus	oesophagus
23	chr6:163838000-163843800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:163838000-163847600	Weak transcription	Pancreas	Pancrea
25	chr6:163838000-163851600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:163838000-163860600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr6:163838200-163841600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr6:163838400-163841800	Enhancers	Primary T cells from cord blood	blood
29	chr6:163838400-163842400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:163838400-163842600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr6:163838400-163845000	Weak transcription	Placenta	Placenta
32	chr6:163838600-163842200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:163838800-163845200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr6:163839000-163842000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:163839000-163842400	Enhancers	Rectal Smooth Muscle	rectum
36	chr6:163839200-163841800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr6:163839200-163842200	Enhancers	Primary hematopoietic stem cells	blood
38	chr6:163839200-163842400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr6:163839200-163843200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr6:163839200-163845400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr6:163839400-163842000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:163839600-163846200	Weak transcription	Thymus	Thymus
43	chr6:163839800-163841600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:163839800-163841800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:163839800-163842400	Enhancers	Fetal Lung	lung
46	chr6:163839800-163851600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr6:163840000-163842600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr6:163840000-163845000	Enhancers	Colon Smooth Muscle	Colon
49	chr6:163840200-163842600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr6:163840200-163842600	Enhancers	Fetal Kidney	kidney

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