Variant report

Variant	rs1737085
Chromosome Location	chr6:29716390-29716391
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr6:29716018-29717456	K562	blood:	n/a	chr6:29716903-29716913
2	MAZ	chr6:29716351-29717273	Hela-S3	cervix:	n/a	chr6:29716903-29716913
3	ZNF263	chr6:29715850-29716823	HEK293-T-REx	kidney:	n/a	chr6:29716015-29716036 chr6:29715958-29715967 chr6:29716063-29716084
4	POLR2A	chr6:29716334-29717147	Hela-S3	cervix:	n/a	n/a
5	SIN3A	chr6:29715713-29717573	H1-hESC	embryonic stem cell:	n/a	chr6:29717251-29717262 chr6:29717074-29717085
6	POLR2A	chr6:29715691-29717474	K562	blood:	n/a	n/a
7	POLR2A	chr6:29716305-29717152	PFSK-1	brain:	n/a	n/a
8	UBTF	chr6:29715887-29717338	K562	blood:	n/a	n/a
9	POLR2A	chr6:29716300-29717145	HUVEC	blood vessel:	n/a	n/a
10	MAX	chr6:29716179-29717075	ECC-1	luminal epithelium:	n/a	chr6:29716903-29716913
11	ZBTB7A	chr6:29716316-29716895	ECC-1	luminal epithelium:	n/a	n/a
12	MAZ	chr6:29715956-29717238	IMR90	lung:	n/a	chr6:29716903-29716913
13	E2F6	chr6:29716239-29717158	K562	blood:	n/a	chr6:29716885-29716894 chr6:29716995-29717010 chr6:29716642-29716651 chr6:29717009-29717016
14	BHLHE40	chr6:29716290-29717115	K562	blood:	n/a	chr6:29716633-29716649
15	RCOR1	chr6:29716360-29716993	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr6:29716340-29716490	AG04449	skin:	n/a	n/a
17	CTCF	chr6:29716380-29716530	GM12866	blood:	n/a	n/a
18	CTCF	chr6:29716380-29716530	GM12873	blood:	n/a	n/a
19	SMARCB1	chr6:29715985-29717347	Hela-S3	cervix:	n/a	n/a
20	UBTF	chr6:29716159-29716412	K562	blood:	n/a	n/a
21	MTA3	chr6:29716179-29716918	GM12878	blood:	n/a	n/a
22	RCOR1	chr6:29716297-29717377	K562	blood:	n/a	n/a
23	ZBTB7A	chr6:29716375-29716923	ECC-1	luminal epithelium:	n/a	n/a
24	MAX	chr6:29716294-29717355	HepG2	liver:	n/a	chr6:29716903-29716913
25	HCFC1	chr6:29716302-29717779	K562	blood:	n/a	n/a
26	HMGN3	chr6:29716271-29717145	K562	blood:	n/a	n/a
27	CTCF	chr6:29716360-29716510	GM12873	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29716340-29716390	HRCEpiC	kidney:	n/a
2	chr6:29716340-29716390	PANC-1	pancreas:	n/a
3	chr6:29716340-29716390	U87	brain:	n/a
4	chr6:29716340-29716390	HRPEpiC	eye:	n/a
5	chr6:29716340-29716390	HEK293	kidney:	embryo
6	chr6:29716340-29716390	GM12878	blood:	n/a
7	chr6:29716340-29716390	Jurkat	blood:	n/a
8	chr6:29716340-29716390	HL-60	blood:	n/a
9	chr6:29716340-29716390	AoSMC	blood vessel:	n/a
10	chr6:29716340-29716390	PFSK-1	brain:	n/a
11	chr6:29716340-29716390	ovcar-3	ovarian:	n/a
12	chr6:29716340-29716390	H1-hESC	embryonic stem cell:	embryo
13	chr6:29716340-29716390	CMK	blood:	n/a
14	chr6:29716340-29716390	HNPCEpiC	eye:	n/a
15	chr6:29716340-29716390	HIPEpiC	eye:	n/a
16	chr6:29716340-29716390	LNCaP	prostate:	n/a
17	chr6:29716340-29716390	GM12891	blood:	n/a
18	chr6:29716340-29716390	A549	lung:	n/a
19	chr6:29716340-29716390	GM12892	blood:	n/a
20	chr6:29716340-29716390	SAEC	small airway:	n/a
21	chr6:29716340-29716390	T-47D	breast:	n/a
22	chr6:29716340-29716390	HepG2	liver:	n/a
23	chr6:29716340-29716390	ProgFib	skin:	n/a
24	chr6:29716340-29716390	IMR90	lung:	fetal
25	chr6:29716340-29716390	SK-N-SH_RA	brain:	n/a
26	chr6:29716340-29716390	AG09319	gingival:	n/a
27	chr6:29716340-29716390	SK-N-SH	brain:	n/a
28	chr6:29716340-29716390	NHDF-neo	bronchial:	n/a
29	chr6:29716340-29716390	Hela-S3	cervix:	n/a
30	chr6:29716340-29716390	HCT-116	colon:	n/a
31	chr6:29716340-29716390	HAEpiC	amniotic membrane:	n/a
32	chr6:29716340-29716390	AG10803	skin:	n/a
33	chr6:29716340-29716390	HMEC	breast:	n/a
34	chr6:29716340-29716390	K562	blood:	n/a
35	chr6:29716340-29716390	MCF10A-Er-Src	breast:	n/a
36	chr6:29716340-29716390	NB4	blood:	n/a
37	chr6:29716340-29716390	MCF-7	breast:	n/a
38	chr6:29716340-29716390	Caco-2	colon:	n/a
39	chr6:29716340-29716390	ECC-1	luminal epithelium:	n/a
40	chr6:29716340-29716390	HPAEpiC	pulmonary alveolar:	n/a
41	chr6:29716340-29716390	HEEpiC	esophagus:	n/a
42	chr6:29716340-29716390	AG04450	lung:	fetal
43	chr6:29716340-29716390	BJ	skin:	n/a
44	chr6:29716340-29716390	HUVEC	blood vessel:	n/a
45	chr6:29716340-29716390	BE2_C	brain:	n/a
46	chr6:29716340-29716390	GM19239	blood:	n/a
47	chr6:29716340-29716390	GM06990	blood:	n/a
48	chr6:29716340-29716390	NHBE	bronchial:	n/a
49	chr6:29716340-29716390	NH-A	brain:	n/a
50	chr6:29716340-29716390	HRE	kidney:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:29716316..29718223-chr6:29719581..29721724,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000199290	TF binding region
ENSG00000199290	CpG island
ENSG00000272236	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1610622	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1610733	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1610734	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1610736	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1623122	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1633080	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1633084	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1633085	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1633089	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16867712	0.86[ASN][1000 genomes]
rs1737083	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2394164	0.84[ASN][1000 genomes]
rs34260811	0.88[ASN][1000 genomes]
rs4713237	0.81[ASN][1000 genomes]
rs4713239	0.86[ASN][1000 genomes]
rs4713240	0.88[ASN][1000 genomes]
rs4713242	0.84[ASN][1000 genomes]
rs4713244	0.88[ASN][1000 genomes]
rs760145	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7754067	0.83[ASN][1000 genomes]
rs7759474	0.85[ASN][1000 genomes]
rs909728	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs909729	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9368609	0.87[ASN][1000 genomes]
rs9391660	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv20940	chr6:29653954-29923410	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv428475	chr6:29659525-29763392	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers 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
3	nsv428139	chr6:29659525-29892317	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv427749	chr6:29659525-29975144	Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv508397	chr6:29663132-29761448	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	esv1821077	chr6:29670915-29726207	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	esv1794141	chr6:29670915-29765814	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv10809	chr6:29692573-29794119	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv883532	chr6:29703262-29814963	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv883534	chr6:29708222-29724310	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	esv3441842	chr6:29715749-29942950	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1737085	FLJ35429	cis	multi-tissue	Pritchard
rs1737085	HIST1H2AH	cis	cerebellum	SCAN
rs1737085	HLA-A	cis	lymphoblastoid	seeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29715200-29717200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:29715400-29717400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:29715400-29717600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr6:29715400-29717800	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr6:29715600-29716400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:29715600-29716400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:29715600-29716400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:29715600-29716400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:29715600-29716400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
10	chr6:29715600-29716600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr6:29715600-29716800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr6:29715600-29716800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr6:29715600-29716800	Flanking Bivalent TSS/Enh	HepG2	liver
14	chr6:29715600-29717200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr6:29715600-29717200	Active TSS	Rectal Smooth Muscle	rectum
16	chr6:29715600-29717400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr6:29715600-29718000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr6:29715800-29716400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
19	chr6:29715800-29716400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr6:29715800-29716400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr6:29715800-29716400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:29715800-29716400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr6:29715800-29716400	Flanking Active TSS	Spleen	Spleen
24	chr6:29715800-29716600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:29715800-29716600	Flanking Active TSS	Pancreas	Pancrea
26	chr6:29715800-29716600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
27	chr6:29715800-29716800	Flanking Active TSS	Colonic Mucosa	Colon
28	chr6:29715800-29716800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
29	chr6:29715800-29716800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr6:29715800-29717000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:29715800-29717000	Active TSS	HMEC	breast
32	chr6:29715800-29717200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:29715800-29717200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:29715800-29717200	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr6:29715800-29717200	Active TSS	A549	lung
36	chr6:29715800-29717200	Active TSS	HSMM	muscle
37	chr6:29715800-29717200	Active TSS	HSMMtube	muscle
38	chr6:29715800-29717200	Active TSS	NHLF	lung
39	chr6:29715800-29717200	Active TSS	Osteobl	bone
40	chr6:29715800-29717400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr6:29715800-29717400	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr6:29715800-29717600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:29715800-29717600	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr6:29715800-29717600	Bivalent/Poised TSS	Fetal Lung	lung
45	chr6:29716000-29716400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:29716000-29716400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
47	chr6:29716000-29716400	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr6:29716000-29716400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:29716000-29716400	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr6:29716000-29716400	Flanking Active TSS	Fetal Heart	heart

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