Variant report

Variant	rs1322453
Chromosome Location	chr6:114291582-114291583
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	TAF1	chr6:114290900-114292771	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr6:114290843-114292994	HUVEC	blood vessel:	n/a	n/a
3	TAF1	chr6:114290884-114292844	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr6:114291184-114293261	NB4	blood:	n/a	n/a
5	POLR2A	chr6:114291331-114292888	GM15510	blood:	n/a	n/a
6	POLR2A	chr6:114290983-114291801	GM12892	blood:	n/a	n/a
7	REST	chr6:114290867-114291666	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr6:114291205-114292839	ECC-1	luminal epithelium:	n/a	n/a
9	YY1	chr6:114291362-114292821	HepG2	liver:	n/a	chr6:114292647-114292658 chr6:114291544-114291555 chr6:114291697-114291706 chr6:114292585-114292599 chr6:114291546-114291555 chr6:114291725-114291739
10	POLR2A	chr6:114291313-114291721	HepG2	liver:	n/a	n/a
11	UBTF	chr6:114291080-114292789	K562	blood:	n/a	n/a
12	POLR2A	chr6:114291185-114292859	HEK293	kidney:	n/a	n/a
13	GTF2F1	chr6:114290987-114291706	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZNF143	chr6:114291431-114291669	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr6:114291286-114293296	K562	blood:	n/a	n/a
16	HMGN3	chr6:114291456-114292863	K562	blood:	n/a	n/a
17	TAF1	chr6:114291443-114292924	ECC-1	luminal epithelium:	n/a	n/a
18	MAX	chr6:114291329-114292885	GM12878	blood:	n/a	chr6:114292685-114292695 chr6:114292686-114292695 chr6:114292685-114292696 chr6:114292686-114292695 chr6:114292685-114292694 chr6:114292687-114292694
19	CHD2	chr6:114291097-114291844	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr6:114291353-114292996	ECC-1	luminal epithelium:	n/a	chr6:114292685-114292695 chr6:114292686-114292695 chr6:114292685-114292696 chr6:114292686-114292695 chr6:114292685-114292694 chr6:114292687-114292694
21	SIN3AK20	chr6:114290984-114292982	MCF-7	breast:	n/a	n/a
22	POLR2A	chr6:114291050-114292882	GM18505	blood:	n/a	n/a
23	ZBTB7A	chr6:114291160-114293042	ECC-1	luminal epithelium:	n/a	chr6:114291806-114291814 chr6:114292725-114292732
24	CTCF	chr6:114291580-114291730	HMEC	breast:	n/a	n/a
25	CHD1	chr6:114291207-114292819	GM12878	blood:	n/a	n/a
26	POLR2A	chr6:114291500-114292695	GM12878	blood:	n/a	n/a
27	CHD2	chr6:114291442-114291663	HepG2	liver:	n/a	n/a
28	POLR2A	chr6:114291387-114291955	Hela-S3	cervix:	n/a	n/a
29	RUNX3	chr6:114290883-114292853	GM12878	blood:	n/a	chr6:114291822-114291839
30	ZBTB7A	chr6:114291295-114292804	K562	blood:	n/a	chr6:114291806-114291814 chr6:114292725-114292732
31	YY1	chr6:114291439-114292543	K562	blood:	n/a	chr6:114291544-114291555 chr6:114291697-114291706 chr6:114291546-114291555 chr6:114291725-114291739
32	MAX	chr6:114291202-114292979	MCF-7	breast:	n/a	chr6:114292685-114292695 chr6:114292686-114292695 chr6:114292685-114292696 chr6:114292686-114292695 chr6:114292685-114292694 chr6:114292687-114292694
33	E2F6	chr6:114291449-114292861	K562	blood:	n/a	chr6:114291662-114291677 chr6:114292668-114292679 chr6:114291661-114291673 chr6:114291836-114291846 chr6:114291816-114291828
34	MAX	chr6:114291266-114291897	K562	blood:	n/a	n/a
35	POLR2A	chr6:114291196-114291719	GM12891	blood:	n/a	n/a
36	POLR2A	chr6:114291340-114292786	K562	blood:	n/a	n/a
37	EGR1	chr6:114290980-114291824	K562	blood:	n/a	chr6:114291686-114291699 chr6:114291695-114291709
38	POLR2A	chr6:114290889-114292952	GM12892	blood:	n/a	n/a
39	E2F6	chr6:114291350-114293263	K562	blood:	n/a	chr6:114291662-114291677 chr6:114292668-114292679 chr6:114291661-114291673 chr6:114291836-114291846 chr6:114291816-114291828
40	MAX	chr6:114291388-114292960	H1-hESC	embryonic stem cell:	n/a	chr6:114292685-114292695 chr6:114292686-114292695 chr6:114292685-114292696 chr6:114292686-114292695 chr6:114292685-114292694 chr6:114292687-114292694
41	E2F6	chr6:114291443-114292884	Hela-S3	cervix:	n/a	chr6:114291662-114291677 chr6:114292668-114292679 chr6:114291661-114291673 chr6:114291836-114291846 chr6:114291816-114291828
42	MAZ	chr6:114291026-114293265	K562	blood:	n/a	chr6:114292685-114292695 chr6:114292686-114292695 chr6:114292685-114292696 chr6:114292686-114292695 chr6:114292685-114292694 chr6:114292687-114292694
43	JUND	chr6:114291207-114293363	GM12878	blood:	n/a	n/a
44	E2F4	chr6:114291080-114292856	K562	blood:	n/a	chr6:114292668-114292679 chr6:114291662-114291677 chr6:114291661-114291673 chr6:114291836-114291846 chr6:114291816-114291828
45	MYC	chr6:114291343-114293215	K562	blood:	n/a	chr6:114292685-114292695 chr6:114292686-114292695 chr6:114292685-114292696 chr6:114292686-114292695 chr6:114292685-114292694 chr6:114292687-114292694
46	POLR2A	chr6:114291344-114292771	HepG2	liver:	n/a	n/a
47	POLR2A	chr6:114291232-114292945	K562	blood:	n/a	n/a
48	YY1	chr6:114291469-114292841	GM12878	blood:	n/a	chr6:114292647-114292658 chr6:114291544-114291555 chr6:114291697-114291706 chr6:114292585-114292599 chr6:114291546-114291555 chr6:114291725-114291739
49	MAX	chr6:114291343-114293091	HCT-116	colon:	n/a	chr6:114292685-114292695 chr6:114292686-114292695 chr6:114292685-114292696 chr6:114292686-114292695 chr6:114292685-114292694 chr6:114292687-114292694
50	POLR2A	chr6:114291234-114292874	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:114276746..114279489-chr6:114289754..114292765,3	MCF-7	breast:
2	chr6:114287867..114290622-chr6:114290692..114293112,2	MCF-7	breast:
3	chr12:49656786..49659396-chr6:114291007..114293085,2	MCF-7	breast:
4	chr6:114177680..114181410-chr6:114290377..114292499,3	MCF-7	breast:
5	chr6:114270434..114272529-chr6:114290878..114292915,2	K562	blood:

Variant related genes	Relation type
ENSG00000228624	TF binding region
HDAC2	TF binding region
ENSG00000167553	Chromatin interaction
ENSG00000155130	Chromatin interaction
ENSG00000196591	Chromatin interaction
ENSG00000258101	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12660414	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12660832	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12665655	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13191525	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13191982	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13194921	0.84[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13201727	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13204434	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13204445	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13206211	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13208986	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13209064	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13212298	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13213007	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13213042	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13216873	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13219947	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1358945	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17075712	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2025191	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34319597	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34789089	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35846930	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3778216	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548388	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv520419	chr6:114285253-114306614	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr6:114288000-114293400	Active TSS	GM12878-XiMat	blood
2	chr6:114289600-114293200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:114289800-114292800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr6:114289800-114293000	Active TSS	NHLF	lung
5	chr6:114289800-114293200	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr6:114289800-114293200	Active TSS	HSMMtube	muscle
7	chr6:114290000-114292800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:114290000-114293000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:114290000-114293000	Active TSS	Fetal Intestine Small	intestine
10	chr6:114290000-114293000	Active TSS	A549	lung
11	chr6:114290000-114293200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:114290000-114293200	Active TSS	Right Ventricle	heart
13	chr6:114290200-114291600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:114290200-114291600	Active TSS	Fetal Brain Male	brain
15	chr6:114290200-114292600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:114290200-114292800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:114290200-114292800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:114290200-114292800	Active TSS	Fetal Stomach	stomach
19	chr6:114290200-114293000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr6:114290200-114293000	Active TSS	H1 Cell Line	embryonic stem cell
21	chr6:114290200-114293000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:114290200-114293000	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr6:114290200-114293000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:114290200-114293000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:114290200-114293200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:114290200-114293200	Active TSS	Fetal Muscle Trunk	muscle
27	chr6:114290200-114293200	Active TSS	Ovary	ovary
28	chr6:114290200-114293200	Active TSS	Stomach Smooth Muscle	stomach
29	chr6:114290200-114293200	Active TSS	HSMM	muscle
30	chr6:114290400-114291600	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr6:114290400-114292200	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr6:114290400-114292600	Active TSS	Fetal Muscle Leg	muscle
33	chr6:114290400-114292600	Active TSS	NH-A	brain
34	chr6:114290400-114292800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr6:114290400-114293000	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr6:114290400-114293000	Active TSS	Thymus	Thymus
37	chr6:114290400-114293000	Active TSS	K562	blood
38	chr6:114290400-114293200	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr6:114290400-114293200	Active TSS	Fetal Brain Female	brain
40	chr6:114290400-114293200	Active TSS	NHDF-Ad	bronchial
41	chr6:114290400-114293400	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr6:114290400-114293400	Active TSS	HMEC	breast
43	chr6:114290600-114291600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:114290600-114292600	Active TSS	Fetal Thymus	thymus
45	chr6:114290600-114292800	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr6:114290600-114292800	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr6:114290600-114293000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:114290600-114293000	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr6:114290600-114293000	Active TSS	Aorta	Aorta
50	chr6:114290600-114293000	Active TSS	Fetal Intestine Large	intestine

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