Variant report

Variant	rs783403
Chromosome Location	chr6:106957506-106957507
allele	C/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	CTCF	chr6:106957240-106957510	NHDF-neo	bronchial:	n/a	chr6:106957437-106957446
2	CTCF	chr6:106957360-106957510	GM12866	blood:	n/a	chr6:106957437-106957446
3	CTCF	chr6:106957380-106957530	GM12873	blood:	n/a	chr6:106957437-106957446
4	CTCF	chr6:106957360-106957510	GM12864	blood:	n/a	chr6:106957437-106957446
5	SPI1	chr6:106957372-106957643	GM12891	blood:	n/a	n/a
6	CTCF	chr6:106957360-106957510	GM12865	blood:	n/a	chr6:106957437-106957446
7	CTCF	chr6:106957420-106957570	WERI-Rb-1	eye:	n/a	chr6:106957437-106957446
8	CTCF	chr6:106957500-106957650	HVMF	connective:	n/a	n/a
9	CTCF	chr6:106957397-106957508	GM12878	blood:	n/a	chr6:106957437-106957446
10	RAD21	chr6:106957308-106957569	GM12878	blood:	n/a	n/a
11	CTCF	chr6:106957380-106957530	AG04449	skin:	n/a	chr6:106957437-106957446
12	CTCF	chr6:106957360-106957510	GM12868	blood:	n/a	chr6:106957437-106957446
13	CTCF	chr6:106957420-106957570	HUVEC	blood vessel:	n/a	chr6:106957437-106957446
14	CTCF	chr6:106957359-106957539	IMR90	lung:	n/a	chr6:106957437-106957446
15	CTCF	chr6:106957360-106957510	HBMEC	blood vessel:	n/a	chr6:106957437-106957446
16	CTCF	chr6:106957308-106957614	H1-hESC	embryonic stem cell:	n/a	chr6:106957437-106957446
17	CTCF	chr6:106957360-106957510	HCPEpiC	choroid plexus:	n/a	chr6:106957437-106957446
18	CTCF	chr6:106957400-106957550	HA-sp	spinal cord:	n/a	chr6:106957437-106957446
19	CTCF	chr6:106957420-106957570	AoAF	blood vessel:	n/a	chr6:106957437-106957446
20	CTCF	chr6:106957360-106957510	GM12874	blood:	n/a	chr6:106957437-106957446
21	JUND	chr6:106957371-106957653	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr6:106957380-106957530	GM12865	blood:	n/a	chr6:106957437-106957446
23	CTCF	chr6:106957400-106957550	GM12873	blood:	n/a	chr6:106957437-106957446
24	RAD21	chr6:106957244-106957630	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr6:106957400-106957550	GM12874	blood:	n/a	chr6:106957437-106957446
26	RAD21	chr6:106957238-106957720	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr6:106957380-106957530	HRE	kidney:	n/a	chr6:106957437-106957446
28	CTCF	chr6:106957380-106957530	HAc	cerebellar:	n/a	chr6:106957437-106957446
29	RAD21	chr6:106957309-106957523	IMR90	lung:	n/a	n/a
30	CTCF	chr6:106957448-106957510	GM12878	blood:	n/a	n/a
31	CTCF	chr6:106957360-106957510	HCFaa	heart:	n/a	chr6:106957437-106957446
32	CTCF	chr6:106957360-106957510	GM12873	blood:	n/a	chr6:106957437-106957446
33	CTCF	chr6:106957420-106957570	HRE	kidney:	n/a	chr6:106957437-106957446
34	RAD21	chr6:106957291-106957592	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr6:106957400-106957550	GM12872	blood:	n/a	chr6:106957437-106957446
36	CTCF	chr6:106957400-106957550	HFF-Myc	foreskin:	n/a	chr6:106957437-106957446
37	CTCF	chr6:106957380-106957530	GM12871	blood:	n/a	chr6:106957437-106957446
38	CTCF	chr6:106957400-106957550	GM12869	blood:	n/a	chr6:106957437-106957446
39	CTCF	chr6:106957380-106957530	GM12869	blood:	n/a	chr6:106957437-106957446
40	CTCF	chr6:106957380-106957530	HPF	lung:	n/a	chr6:106957437-106957446
41	CTCF	chr6:106957380-106957530	HUVEC	blood vessel:	n/a	chr6:106957437-106957446
42	CTCF	chr6:106957360-106957507	H1-hESC	embryonic stem cell:	n/a	chr6:106957437-106957446
43	CTCF	chr6:106957440-106957590	GM06990	blood:	n/a	n/a
44	CTCF	chr6:106957400-106957550	NHDF-neo	bronchial:	n/a	chr6:106957437-106957446
45	CTCF	chr6:106957360-106957510	AG04450	lung:	n/a	chr6:106957437-106957446
46	CTCF	chr6:106957360-106957510	GM12872	blood:	n/a	chr6:106957437-106957446
47	CTCF	chr6:106957360-106957510	SK-N-SH_RA	brain:	n/a	chr6:106957437-106957446
48	CTCF	chr6:106957400-106957550	AG04450	lung:	n/a	chr6:106957437-106957446

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:106957497-106957547	HUVEC	blood vessel:	n/a
2	chr6:106957497-106957547	NH-A	brain:	n/a
3	chr6:106957497-106957547	HEK293	kidney:	embryo
4	chr6:106957497-106957547	AG09309	skin:	n/a
5	chr6:106957497-106957547	HEEpiC	esophagus:	n/a
6	chr6:106957497-106957547	HRE	kidney:	n/a
7	chr6:106957497-106957547	Hela-S3	cervix:	n/a
8	chr6:106957497-106957547	GM12891	blood:	n/a
9	chr6:106957497-106957547	AG04450	lung:	fetal
10	chr6:106957497-106957547	PANC-1	pancreas:	n/a
11	chr6:106957497-106957547	HNPCEpiC	eye:	n/a
12	chr6:106957497-106957547	SKMC	muscle:	n/a
13	chr6:106957497-106957547	U87	brain:	n/a
14	chr6:106957497-106957547	NHDF-neo	bronchial:	n/a
15	chr6:106957497-106957547	ECC-1	luminal epithelium:	n/a
16	chr6:106957497-106957547	RPTEC	kidney:	n/a
17	chr6:106957497-106957547	HRPEpiC	eye:	n/a
18	chr6:106957497-106957547	CMK	blood:	n/a
19	chr6:106957497-106957547	SK-N-SH_RA	brain:	n/a
20	chr6:106957497-106957547	K562	blood:	n/a
21	chr6:106957497-106957547	GM19239	blood:	n/a
22	chr6:106957497-106957547	NB4	blood:	n/a
23	chr6:106957497-106957547	BJ	skin:	n/a
24	chr6:106957497-106957547	A549	lung:	n/a
25	chr6:106957497-106957547	SK-N-SH	brain:	n/a
26	chr6:106957497-106957547	T-47D	breast:	n/a
27	chr6:106957497-106957547	LNCaP	prostate:	n/a
28	chr6:106957497-106957547	IMR90	lung:	fetal
29	chr6:106957497-106957547	HPAEpiC	pulmonary alveolar:	n/a
30	chr6:106957497-106957547	GM12892	blood:	n/a
31	chr6:106957497-106957547	AG04449	skin:	fetal
32	chr6:106957497-106957547	Caco-2	colon:	n/a
33	chr6:106957497-106957547	HCM	heart:	n/a
34	chr6:106957497-106957547	ovcar-3	ovarian:	n/a
35	chr6:106957497-106957547	HCT-116	colon:	n/a
36	chr6:106957497-106957547	Hepatocyte	liver:	n/a
37	chr6:106957497-106957547	GM06990	blood:	n/a
38	chr6:106957497-106957547	BE2_C	brain:	n/a
39	chr6:106957497-106957547	PFSK-1	brain:	n/a
40	chr6:106957497-106957547	MCF-7	breast:	n/a
41	chr6:106957497-106957547	AG10803	skin:	n/a
42	chr6:106957497-106957547	H1-hESC	embryonic stem cell:	embryo
43	chr6:106957497-106957547	HAEpiC	amniotic membrane:	n/a
44	chr6:106957497-106957547	PrEC	prostate:	n/a
45	chr6:106957497-106957547	NT2-D1	testis:	n/a
46	chr6:106957497-106957547	NHBE	bronchial:	n/a
47	chr6:106957497-106957547	HMEC	breast:	n/a
48	chr6:106957497-106957547	ProgFib	skin:	n/a
49	chr6:106957497-106957547	MCF10A-Er-Src	breast:	n/a
50	chr6:106957497-106957547	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:106955204..106959628-chr6:106966256..106969365,4	K562	blood:
2	chr6:106956358..106959318-chr6:106991274..106994095,2	MCF-7	breast:

Variant related genes	Relation type
AIM1	TF binding region
AIM1	CpG island
ENSG00000112297	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1340623	0.92[ASN][1000 genomes]
rs1676025	0.85[CEU][hapmap]
rs1799693	0.85[CEU][hapmap]
rs6906338	0.85[CEU][hapmap]
rs783395	0.85[CEU][hapmap]
rs783396	0.85[CEU][hapmap]
rs783401	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv870375	chr6:106696090-107047892	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1025510	chr6:106791080-106982400	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv538404	chr6:106791080-106982400	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106945600-106957600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:106950000-106957800	Weak transcription	Pancreas	Pancrea
3	chr6:106951400-106957800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:106952600-106957600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:106956400-106957600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:106956400-106957600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:106956600-106957600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr6:106956600-106958000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:106956800-106957800	Bivalent Enhancer	Fetal Intestine Large	intestine
10	chr6:106956800-106957800	Bivalent Enhancer	NHLF	lung
11	chr6:106956800-106959600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr6:106957000-106957600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr6:106957000-106957600	Flanking Active TSS	Dnd41	blood
14	chr6:106957000-106957600	Bivalent Enhancer	NH-A	brain
15	chr6:106957000-106957800	Bivalent Enhancer	Fetal Lung	lung
16	chr6:106957000-106958000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:106957000-106959200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr6:106957000-106962800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:106957200-106957600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:106957200-106957600	Weak transcription	NHEK	skin
21	chr6:106957200-106958000	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr6:106957200-106958800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr6:106957200-106958800	Weak transcription	Hela-S3	cervix
24	chr6:106957200-106960000	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr6:106957200-106961200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr6:106957200-106961600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr6:106957200-106962800	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr6:106957400-106957600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr6:106957400-106957600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:106957400-106957600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:106957400-106957600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:106957400-106957600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr6:106957400-106957600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr6:106957400-106957600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr6:106957400-106957600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:106957400-106957600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr6:106957400-106957600	Bivalent Enhancer	Fetal Intestine Small	intestine
38	chr6:106957400-106957600	Bivalent/Poised TSS	GM12878-XiMat	blood
39	chr6:106957400-106957800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
40	chr6:106957400-106957800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:106957400-106957800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:106957400-106957800	Active TSS	Duodenum Mucosa	Duodenum
43	chr6:106957400-106957800	Bivalent Enhancer	Fetal Brain Male	brain
44	chr6:106957400-106957800	Enhancers	HMEC	breast
45	chr6:106957400-106958000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
46	chr6:106957400-106958000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:106957400-106958000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:106957400-106958000	Enhancers	Esophagus	oesophagus
49	chr6:106957400-106958000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr6:106957400-106958000	Bivalent Enhancer	Fetal Stomach	stomach

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