Variant report

Variant	rs4112651
Chromosome Location	chr6:163837341-163837342
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	POLR2A	chr6:163833865-163837731	GM18505	blood:	n/a	n/a
2	RCOR1	chr6:163836829-163837973	GM12878	blood:	n/a	n/a
3	CUX1	chr6:163836923-163837378	K562	blood:	n/a	n/a
4	NRF1	chr6:163837195-163837480	K562	blood:	n/a	n/a
5	TBL1XR1	chr6:163836856-163839187	K562	blood:	n/a	n/a
6	CTCF	chr6:163837014-163838703	K562	blood:	n/a	n/a
7	CHD2	chr6:163836807-163837612	GM12878	blood:	n/a	n/a
8	BRCA1	chr6:163837066-163837541	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr6:163836214-163838037	GM12891	blood:	n/a	n/a
10	RELA	chr6:163836842-163837758	GM19099	blood:	n/a	n/a
11	MYC	chr6:163836644-163838151	K562	blood:	n/a	chr6:163837085-163837095 chr6:163836739-163836748
12	SIN3A	chr6:163836167-163838166	H1-hESC	embryonic stem cell:	n/a	chr6:163836693-163836704
13	ZNF384	chr6:163836894-163839662	K562	blood:	n/a	n/a
14	CTCF	chr6:163837233-163837353	GM12878	blood:	n/a	n/a
15	RFX5	chr6:163837282-163837406	K562	blood:	n/a	n/a
16	BACH1	chr6:163836952-163838291	K562	blood:	n/a	n/a
17	POLR2A	chr6:163836200-163838333	K562	blood:	n/a	n/a
18	MXI1	chr6:163833200-163838755	SK-N-SH	brain:	n/a	n/a
19	CHD1	chr6:163835594-163839152	IMR90	lung:	n/a	n/a
20	RAD21	chr6:163836844-163838236	IMR90	lung:	n/a	n/a
21	POLR2A	chr6:163834145-163837397	GM12892	blood:	n/a	n/a
22	ZNF263	chr6:163836562-163837361	HEK293-T-REx	kidney:	n/a	n/a
23	IRF1	chr6:163836838-163839596	K562	blood:	n/a	chr6:163837498-163837512 chr6:163837425-163837441 chr6:163837502-163837512 chr6:163837502-163837516 chr6:163837499-163837516 chr6:163837500-163837513 chr6:163837499-163837513 chr6:163837496-163837510 chr6:163837494-163837514 chr6:163837502-163837513 chr6:163837500-163837513 chr6:163838093-163838100
24	RUNX3	chr6:163836691-163837570	GM12878	blood:	n/a	chr6:163837407-163837416
25	ZBTB33	chr6:163836732-163837345	SK-N-SH	brain:	n/a	n/a
26	TBP	chr6:163836856-163837346	K562	blood:	n/a	n/a
27	MAFF	chr6:163836958-163837426	K562	blood:	n/a	n/a
28	EP300	chr6:163836918-163837596	GM12878	blood:	n/a	chr6:163837497-163837511
29	POLR2A	chr6:163836764-163837442	MCF10A-Er-Src	breast:	n/a	n/a
30	PML	chr6:163836687-163837804	GM12878	blood:	n/a	n/a
31	MXI1	chr6:163834204-163838057	HepG2	liver:	n/a	n/a
32	BHLHE40	chr6:163836869-163838196	GM12878	blood:	n/a	n/a
33	RCOR1	chr6:163836806-163838110	K562	blood:	n/a	n/a
34	TEAD4	chr6:163836743-163838234	K562	blood:	n/a	n/a
35	POLR2A	chr6:163836717-163838079	HUVEC	blood vessel:	n/a	n/a
36	SMC3	chr6:163836629-163838239	SK-N-SH	brain:	n/a	n/a
37	TBL1XR1	chr6:163837250-163838166	K562	blood:	n/a	n/a
38	SIN3AK20	chr6:163836470-163837349	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr6:163834116-163837395	Hela-S3	cervix:	n/a	n/a
40	MYC	chr6:163837039-163837558	MCF10A-Er-Src	breast:	n/a	chr6:163837085-163837095
41	RUNX3	chr6:163836717-163837630	GM12878	blood:	n/a	chr6:163837407-163837416
42	MTA3	chr6:163836630-163837547	GM12878	blood:	n/a	n/a
43	EP300	chr6:163836865-163837391	GM12878	blood:	n/a	n/a
44	WRNIP1	chr6:163836872-163837356	GM12878	blood:	n/a	n/a
45	UBTF	chr6:163833999-163838048	K562	blood:	n/a	n/a
46	CHD1	chr6:163836215-163838674	GM12878	blood:	n/a	n/a
47	MXI1	chr6:163836833-163837420	K562	blood:	n/a	n/a
48	ZBTB33	chr6:163836807-163837358	SK-N-SH	brain:	n/a	n/a
49	CHD2	chr6:163836693-163838234	K562	blood:	n/a	n/a
50	ZNF384	chr6:163836860-163838209	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163836144..163840696-chr6:163983068..163987938,4	K562	blood:
2	chr6:163832850..163838270-chr6:163950827..163956360,5	K562	blood:

Variant related genes	Relation type
CAHM	TF binding region
QKI	TF binding region
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10080505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12523713	0.92[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12523978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17176494	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60332904	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6455905	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs6901592	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6902608	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6906081	0.90[EUR][1000 genomes]
rs6906275	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6906725	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6910323	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6914093	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6917030	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6928869	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6936927	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6937072	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6937097	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73013516	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73013528	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73013553	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73015316	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7748261	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7759606	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7761090	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7770852	0.92[CEU][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9456868	0.91[CEU][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9458821	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9458823	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458825	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458827	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458828	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458830	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458837	0.92[CEU][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9458849	0.92[CEU][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9458857	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9458859	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs9654569	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	esv3335151	chr6:163833462-163838560	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3439007	chr6:163833987-163837835	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	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
6	esv3397634	chr6:163834862-163837660	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv1809559	chr6:163834909-163838794	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1819183	chr6:163834909-163838794	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1829454	chr6:163834909-163838794	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv1841776	chr6:163834909-163838794	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv1851449	chr6:163834909-163838794	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv605205	chr6:163834909-163838794	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv605209	chr6:163835281-163839012	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163832600-163841400	Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr6:163833000-163843400	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr6:163833200-163841000	Active TSS	Fetal Muscle Leg	muscle
4	chr6:163833200-163842000	Active TSS	HSMMtube	muscle
5	chr6:163833400-163838600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:163833400-163838600	Active TSS	Fetal Kidney	kidney
7	chr6:163833400-163838800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr6:163833400-163839400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr6:163833400-163839400	Active TSS	NH-A	brain
10	chr6:163833400-163839600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:163833400-163839800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:163833400-163839800	Active TSS	Fetal Muscle Trunk	muscle
13	chr6:163833400-163840400	Active TSS	Fetal Brain Female	brain
14	chr6:163833400-163840600	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr6:163833400-163841400	Active TSS	Stomach Smooth Muscle	stomach
16	chr6:163833400-163841400	Active TSS	NHLF	lung
17	chr6:163833400-163843600	Active TSS	Right Ventricle	heart
18	chr6:163833600-163838000	Active TSS	Primary T cells fromperipheralblood	blood
19	chr6:163833600-163838400	Active TSS	Placenta	Placenta
20	chr6:163833600-163838600	Active TSS	NHDF-Ad	bronchial
21	chr6:163833600-163838800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
22	chr6:163833600-163838800	Active TSS	Hela-S3	cervix
23	chr6:163833600-163839400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:163833600-163839600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:163833600-163840000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:163833600-163840400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:163833600-163841400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:163833600-163841400	Active TSS	HSMM	muscle
29	chr6:163833600-163842400	Active TSS	Psoas Muscle	Psoas
30	chr6:163833600-163843000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:163833800-163838000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:163833800-163838000	Active TSS	H9 Cell Line	embryonic stem cell
33	chr6:163833800-163838200	Active TSS	Rectal Smooth Muscle	rectum
34	chr6:163833800-163838200	Active TSS	Monocytes-CD14+_RO01746	blood
35	chr6:163833800-163838600	Active TSS	Adipose Nuclei	Adipose
36	chr6:163833800-163838600	Active TSS	Colon Smooth Muscle	Colon
37	chr6:163833800-163838800	Active TSS	H1 Cell Line	embryonic stem cell
38	chr6:163833800-163838800	Active TSS	Aorta	Aorta
39	chr6:163833800-163839800	Active TSS	Left Ventricle	heart
40	chr6:163833800-163840000	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr6:163833800-163840800	Active TSS	K562	blood
42	chr6:163833800-163841600	Active TSS	Ovary	ovary
43	chr6:163834000-163838000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:163834000-163838000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr6:163834000-163838000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:163834000-163838000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr6:163834000-163838000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
48	chr6:163834000-163838000	Active TSS	Lung	lung
49	chr6:163834000-163839000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr6:163834000-163839000	Active TSS	NHEK	skin

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