Variant report

Variant	rs510432
Chromosome Location	chr6:106774030-106774031
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	MAX	chr6:106773036-106774040	HepG2	liver:	n/a	chr6:106773699-106773714 chr6:106773697-106773712 chr6:106773701-106773710 chr6:106773701-106773711 chr6:106773700-106773710 chr6:106773702-106773711
2	POLR2A	chr6:106773114-106774033	K562	blood:	n/a	n/a
3	POLR2A	chr6:106773023-106774190	HCT-116	colon:	n/a	n/a
4	POLR2A	chr6:106772985-106774090	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr6:106772575-106774070	MCF10A-Er-Src	breast:	n/a	n/a
6	TAF1	chr6:106773081-106774056	A549	lung:	n/a	n/a
7	NFIC	chr6:106773081-106774105	ECC-1	luminal epithelium:	n/a	n/a
8	NFIC	chr6:106772869-106774031	GM12878	blood:	n/a	n/a
9	HDAC2	chr6:106773029-106774168	MCF-7	breast:	n/a	n/a
10	POLR2A	chr6:106772810-106774084	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr6:106773108-106774051	GM10847	blood:	n/a	n/a
12	POLR2A	chr6:106772984-106774096	ProgFib	skin:	n/a	n/a
13	POLR2A	chr6:106772967-106774032	GM12878	blood:	n/a	n/a
14	MAZ	chr6:106772959-106774040	K562	blood:	n/a	chr6:106773699-106773714 chr6:106773697-106773712 chr6:106773701-106773710 chr6:106773701-106773711 chr6:106773700-106773710 chr6:106773702-106773711
15	POLR2A	chr6:106773195-106774033	GM12892	blood:	n/a	n/a
16	POLR2A	chr6:106773042-106774053	GM18505	blood:	n/a	n/a
17	POLR2A	chr6:106772919-106774132	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr6:106773097-106774069	HL-60	blood:	n/a	n/a
19	POLR2A	chr6:106772954-106774040	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:106772824-106774046	GM12891	blood:	n/a	n/a
21	PML	chr6:106773135-106774032	MCF-7	breast:	n/a	n/a
22	GABPA	chr6:106772924-106774175	MCF-7	breast:	n/a	chr6:106773766-106773777
23	TEAD4	chr6:106772977-106774045	ECC-1	luminal epithelium:	n/a	n/a
24	MAFK	chr6:106772891-106774046	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr6:106773092-106774037	NB4	blood:	n/a	n/a
26	POLR2A	chr6:106772930-106774231	H1-hESC	embryonic stem cell:	n/a	n/a
27	REST	chr6:106772936-106774306	H1-neurons	neurons:	n/a	chr6:106773643-106773656
28	POLR2A	chr6:106772996-106774139	K562	blood:	n/a	n/a
29	MAX	chr6:106773019-106774112	A549	lung:	n/a	chr6:106773699-106773714 chr6:106773697-106773712 chr6:106773701-106773710 chr6:106773701-106773711 chr6:106773700-106773710 chr6:106773702-106773711
30	MXI1	chr6:106772875-106774074	IMR90	lung:	n/a	chr6:106773700-106773709 chr6:106773702-106773711
31	SIX5	chr6:106773266-106774070	A549	lung:	n/a	n/a
32	POLR2A	chr6:106773018-106774101	MCF-7	breast:	n/a	n/a
33	POLR2A	chr6:106773106-106774057	SK-N-MC	brain:	n/a	n/a
34	SRF	chr6:106773187-106774056	MCF-7	breast:	n/a	n/a
35	POLR2A	chr6:106773026-106774042	Raji	blood:	n/a	n/a
36	POLR2A	chr6:106773018-106774057	GM19193	blood:	n/a	n/a
37	MXI1	chr6:106772427-106774346	SK-N-SH	brain:	n/a	chr6:106773700-106773709 chr6:106773702-106773711
38	SRF	chr6:106773077-106774038	MCF-7	breast:	n/a	n/a
39	EP300	chr6:106773242-106774056	K562	blood:	n/a	chr6:106773460-106773476
40	PML	chr6:106772889-106774146	GM12878	blood:	n/a	n/a
41	MAX	chr6:106773041-106774100	ECC-1	luminal epithelium:	n/a	chr6:106773699-106773714 chr6:106773697-106773712 chr6:106773701-106773710 chr6:106773701-106773711 chr6:106773700-106773710 chr6:106773702-106773711
42	MAX	chr6:106773104-106774102	HepG2	liver:	n/a	chr6:106773699-106773714 chr6:106773697-106773712 chr6:106773701-106773710 chr6:106773701-106773711 chr6:106773700-106773710 chr6:106773702-106773711
43	SIN3AK20	chr6:106773036-106774155	MCF-7	breast:	n/a	n/a
44	IRF1	chr6:106772676-106774133	K562	blood:	n/a	chr6:106773130-106773147
45	POLR2A	chr6:106772983-106774066	H1-hESC	embryonic stem cell:	n/a	n/a
46	GABPA	chr6:106773078-106774041	HL-60	blood:	n/a	chr6:106773766-106773777
47	ELF1	chr6:106773143-106774033	SK-N-SH	brain:	n/a	n/a
48	USF1	chr6:106773112-106774130	HCT-116	colon:	n/a	n/a
49	TAF1	chr6:106773079-106774077	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr6:106773027-106774099	K562	blood:	n/a	chr6:106773684-106773697

No.	Distal block	Cell Line	Cell type
1	chr6:106773204..106774158-chr7:30517770..30518570,2	Hela-S3	cervix:
2	chr6:106773540..106774259-chr9:139622126..139622737,2	Hela-S3	cervix:
3	chr5:90678707..90679279-chr6:106773660..106774372,2	Hela-S3	cervix:
4	chr1:153508168..153508824-chr6:106773337..106774109,2	Hela-S3	cervix:

Variant related genes	Relation type
ATG5	TF binding region
ENSG00000233016	Chromatin interaction
ENSG00000106100	Chromatin interaction
ENSG00000113369	Chromatin interaction
ENSG00000197956	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11152977	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs11966024	0.87[ASN][1000 genomes]
rs12197000	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12212059	0.92[ASN][1000 genomes]
rs12212377	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13200551	0.87[ASN][1000 genomes]
rs1475270	0.90[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1951485	0.86[ASN][1000 genomes]
rs2284193	0.86[ASN][1000 genomes]
rs2743559	0.88[ASN][1000 genomes]
rs473543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484621	1.00[ASW][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.96[LWK][hapmap];0.84[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs490010	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.83[MKK][hapmap];0.92[ASN][1000 genomes]
rs4946732	0.83[ASN][1000 genomes]
rs506027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524428	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.92[ASN][1000 genomes]
rs532906	0.88[ASN][1000 genomes]
rs546456	0.88[ASN][1000 genomes]
rs547738	0.95[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.83[MKK][hapmap];0.92[ASN][1000 genomes]
rs579801	0.88[ASN][1000 genomes]
rs594819	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs597443	0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs617994	0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs644232	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs665791	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.84[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs669975	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6923641	0.87[ASN][1000 genomes]
rs6924580	0.86[ASN][1000 genomes]
rs698029	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs803360	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs803362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9791213	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1035110	chr6:106557281-106802212	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv538400	chr6:106557281-106802212	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1022855	chr6:106570926-106802072	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv538401	chr6:106570926-106802072	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	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
10	nsv1025963	chr6:106593639-106848778	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	nsv1020047	chr6:106597828-106912047	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv970664	chr6:106635267-106887670	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv1030367	chr6:106667748-106802072	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv538403	chr6:106667748-106802072	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	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

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106771200-106774200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:106772000-106774200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:106772000-106774200	Active TSS	K562	blood
4	chr6:106772200-106774200	Active TSS	Stomach Smooth Muscle	stomach
5	chr6:106772200-106774200	Active TSS	A549	lung
6	chr6:106772400-106774200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:106772400-106774200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:106772400-106774200	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr6:106772400-106774200	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr6:106772400-106774200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:106772400-106774200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:106772400-106774200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:106772400-106774200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr6:106772400-106774200	Active TSS	Right Ventricle	heart
15	chr6:106772400-106774200	Active TSS	HMEC	breast
16	chr6:106772400-106774200	Active TSS	NHLF	lung
17	chr6:106772400-106774400	Active TSS	Psoas Muscle	Psoas
18	chr6:106772600-106774200	Active TSS	H1 Cell Line	embryonic stem cell
19	chr6:106772600-106774200	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr6:106772600-106774200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:106772600-106774200	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr6:106772600-106774200	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr6:106772600-106774200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:106772600-106774200	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr6:106772600-106774200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:106772600-106774200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:106772600-106774200	Active TSS	Fetal Brain Female	brain
28	chr6:106772600-106774200	Active TSS	Fetal Intestine Large	intestine
29	chr6:106772600-106774200	Active TSS	Fetal Muscle Trunk	muscle
30	chr6:106772600-106774200	Active TSS	Ovary	ovary
31	chr6:106772600-106774200	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr6:106772600-106774200	Active TSS	GM12878-XiMat	blood
33	chr6:106772600-106774200	Active TSS	HSMM	muscle
34	chr6:106772600-106774200	Active TSS	NHDF-Ad	bronchial
35	chr6:106772600-106774600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:106772600-106774600	Active TSS	Fetal Intestine Small	intestine
37	chr6:106772600-106774600	Active TSS	Placenta	Placenta
38	chr6:106772800-106774200	Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr6:106772800-106774200	Active TSS	Brain Cingulate Gyrus	brain
40	chr6:106772800-106774200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:106772800-106774200	Active TSS	Colonic Mucosa	Colon
42	chr6:106772800-106774200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr6:106772800-106774200	Active TSS	Fetal Lung	lung
44	chr6:106772800-106774200	Active TSS	Fetal Muscle Leg	muscle
45	chr6:106772800-106774200	Active TSS	Fetal Stomach	stomach
46	chr6:106772800-106774200	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr6:106772800-106774200	Active TSS	NH-A	brain
48	chr6:106773000-106774200	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr6:106773000-106774200	Active TSS	Liver	Liver
50	chr6:106773000-106774200	Active TSS	Brain Angular Gyrus	brain

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