Variant report

Variant	rs13203092
Chromosome Location	chr6:37468116-37468117
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	YY1	chr6:37467322-37468193	H1-hESC	embryonic stem cell:	n/a	chr6:37467763-37467773 chr6:37467766-37467774 chr6:37467762-37467774 chr6:37467763-37467785
2	YY1	chr6:37467327-37468165	GM12892	blood:	n/a	chr6:37467763-37467773 chr6:37467766-37467774 chr6:37467762-37467774 chr6:37467763-37467785
3	SIN3A	chr6:37467283-37468284	H1-hESC	embryonic stem cell:	n/a	n/a
4	YY1	chr6:37467329-37468162	HepG2	liver:	n/a	chr6:37467763-37467773 chr6:37467766-37467774 chr6:37467762-37467774 chr6:37467763-37467785
5	ZNF384	chr6:37467889-37468337	GM12878	blood:	n/a	n/a
6	SIN3AK20	chr6:37467825-37468116	HepG2	liver:	n/a	n/a
7	YY1	chr6:37467262-37468171	GM12878	blood:	n/a	chr6:37467763-37467773 chr6:37467766-37467774 chr6:37467762-37467774 chr6:37467763-37467785
8	NFYA	chr6:37467548-37468127	K562	blood:	n/a	chr6:37468077-37468089 chr6:37467721-37467735 chr6:37467716-37467734 chr6:37467723-37467733 chr6:37467720-37467735 chr6:37467720-37467735
9	EGR1	chr6:37467401-37468173	ECC-1	luminal epithelium:	n/a	chr6:37467695-37467704
10	POLR2A	chr6:37467077-37468193	H1-hESC	embryonic stem cell:	n/a	n/a
11	YY1	chr6:37467359-37468270	SK-N-SH	brain:	n/a	chr6:37467763-37467773 chr6:37467766-37467774 chr6:37467762-37467774 chr6:37467763-37467785
12	IRF1	chr6:37467244-37468129	K562	blood:	n/a	chr6:37468015-37468029
13	REST	chr6:37466921-37468313	H1-neurons	neurons:	n/a	n/a
14	YY1	chr6:37467399-37468152	NT2-D1	testis:	n/a	chr6:37467763-37467773 chr6:37467766-37467774 chr6:37467762-37467774 chr6:37467763-37467785
15	CBX3	chr6:37467167-37468191	K562	blood:	n/a	n/a
16	CHD2	chr6:37467291-37468176	GM12878	blood:	n/a	n/a
17	YY1	chr6:37467256-37468121	A549	lung:	n/a	chr6:37467763-37467773 chr6:37467766-37467774 chr6:37467762-37467774 chr6:37467763-37467785
18	SIN3A	chr6:37467329-37468151	GM12878	blood:	n/a	n/a
19	CREB1	chr6:37467188-37468185	K562	blood:	n/a	n/a
20	YY1	chr6:37467134-37468397	SK-N-SH	brain:	n/a	chr6:37467763-37467773 chr6:37467766-37467774 chr6:37467762-37467774 chr6:37467763-37467785
21	YY1	chr6:37467146-37468272	H1-hESC	embryonic stem cell:	n/a	chr6:37467763-37467773 chr6:37467766-37467774 chr6:37467762-37467774 chr6:37467763-37467785
22	YY1	chr6:37467270-37468203	SK-N-SH_RA	brain:	n/a	chr6:37467763-37467773 chr6:37467766-37467774 chr6:37467762-37467774 chr6:37467763-37467785
23	YY1	chr6:37467341-37468124	SK-N-SH_RA	brain:	n/a	chr6:37467763-37467773 chr6:37467766-37467774 chr6:37467762-37467774 chr6:37467763-37467785
24	MAFF	chr6:37467538-37468210	K562	blood:	n/a	n/a
25	YY1	chr6:37467130-37468257	K562	blood:	n/a	chr6:37467763-37467773 chr6:37467766-37467774 chr6:37467762-37467774 chr6:37467763-37467785
26	ZNF143	chr6:37467422-37468182	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:37467217-37468179	HCT-116	colon:	n/a	n/a
28	YY1	chr6:37467263-37468223	ECC-1	luminal epithelium:	n/a	chr6:37467763-37467773 chr6:37467766-37467774 chr6:37467762-37467774 chr6:37467763-37467785
29	YY1	chr6:37467241-37468148	K562	blood:	n/a	chr6:37467763-37467773 chr6:37467766-37467774 chr6:37467762-37467774 chr6:37467763-37467785
30	NRF1	chr6:37467049-37468123	SK-N-SH	brain:	n/a	chr6:37467693-37467704 chr6:37467691-37467705 chr6:37467694-37467705
31	MYC	chr6:37466920-37468237	K562	blood:	n/a	n/a
32	TEAD4	chr6:37466714-37468228	K562	blood:	n/a	n/a
33	YY1	chr6:37467296-37468198	HCT-116	colon:	n/a	chr6:37467763-37467773 chr6:37467766-37467774 chr6:37467762-37467774 chr6:37467763-37467785
34	CREB1	chr6:37467191-37468125	HepG2	liver:	n/a	n/a
35	YY1	chr6:37467368-37468143	GM12891	blood:	n/a	chr6:37467763-37467773 chr6:37467766-37467774 chr6:37467762-37467774 chr6:37467763-37467785
36	SPI1	chr6:37468110-37468352	GM12878	blood:	n/a	chr6:37468242-37468251 chr6:37468240-37468253 chr6:37468238-37468247
37	MAFK	chr6:37467507-37468118	K562	blood:	n/a	n/a
38	STAT5A	chr6:37467152-37468187	GM12878	blood:	n/a	chr6:37467454-37467466
39	POLR2A	chr6:37466709-37468174	GM12891	blood:	n/a	n/a
40	YY1	chr6:37467315-37468236	ECC-1	luminal epithelium:	n/a	chr6:37467763-37467773 chr6:37467766-37467774 chr6:37467762-37467774 chr6:37467763-37467785
41	YY1	chr6:37467373-37468135	A549	lung:	n/a	chr6:37467763-37467773 chr6:37467766-37467774 chr6:37467762-37467774 chr6:37467763-37467785
42	RCOR1	chr6:37467313-37468128	K562	blood:	n/a	n/a
43	HCFC1	chr6:37466643-37468395	Hela-S3	cervix:	n/a	n/a
44	YY1	chr6:37467134-37468155	HepG2	liver:	n/a	chr6:37467763-37467773 chr6:37467766-37467774 chr6:37467762-37467774 chr6:37467763-37467785
45	YY1	chr6:37467524-37468145	GM12892	blood:	n/a	chr6:37467763-37467773 chr6:37467766-37467774 chr6:37467762-37467774 chr6:37467763-37467785
46	MTA3	chr6:37467052-37468117	GM12878	blood:	n/a	n/a
47	TBP	chr6:37467421-37468289	GM12878	blood:	n/a	n/a
48	HCFC1	chr6:37467273-37468193	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:37465289..37468195-chr6:37607347..37609837,2	K562	blood:
2	chr6:37426593..37429585-chr6:37466350..37468977,2	K562	blood:
3	chr6:37442615..37445754-chr6:37464908..37469103,3	K562	blood:

Variant related genes	Relation type
CCDC167	TF binding region
ENSG00000137200	Chromatin interaction
ENSG00000112139	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13190943	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13212461	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13216875	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13220464	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16889902	1.00[CHB][hapmap]
rs34273308	1.00[ASN][1000 genomes]
rs34327773	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34624330	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35231469	0.82[AMR][1000 genomes]
rs71569375	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71569377	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71569378	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462317	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37466000-37468200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:37466600-37468200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:37466600-37468200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr6:37466600-37468200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:37466600-37468200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr6:37466600-37468200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr6:37466600-37468200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:37466600-37468400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr6:37466800-37468200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:37466800-37468200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:37466800-37468200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr6:37466800-37468200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:37466800-37468200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:37466800-37468200	Active TSS	HSMMtube	muscle
15	chr6:37467000-37468200	Active TSS	H9 Cell Line	embryonic stem cell
16	chr6:37467000-37468200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:37467000-37468200	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr6:37467000-37468200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:37467000-37468200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr6:37467000-37468200	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr6:37467000-37468200	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr6:37467000-37468200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:37467000-37468200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:37467000-37468200	Active TSS	Colonic Mucosa	Colon
25	chr6:37467000-37468200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr6:37467000-37468200	Active TSS	Fetal Intestine Large	intestine
27	chr6:37467000-37468200	Active TSS	Psoas Muscle	Psoas
28	chr6:37467000-37468200	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr6:37467000-37468200	Active TSS	A549	lung
30	chr6:37467000-37468200	Active TSS	HSMM	muscle
31	chr6:37467000-37468200	Active TSS	NH-A	brain
32	chr6:37467000-37468400	Active TSS	H1 Cell Line	embryonic stem cell
33	chr6:37467200-37468200	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr6:37467200-37468200	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr6:37467200-37468200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:37467200-37468200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:37467200-37468200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:37467200-37468200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:37467200-37468200	Active TSS	Muscle Satellite Cultured Cells	--
40	chr6:37467200-37468200	Active TSS	Brain Angular Gyrus	brain
41	chr6:37467200-37468200	Active TSS	Brain Anterior Caudate	brain
42	chr6:37467200-37468200	Active TSS	Brain Cingulate Gyrus	brain
43	chr6:37467200-37468200	Active TSS	Colon Smooth Muscle	Colon
44	chr6:37467200-37468200	Active TSS	Fetal Brain Female	brain
45	chr6:37467200-37468200	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr6:37467200-37468200	Active TSS	Rectal Smooth Muscle	rectum
47	chr6:37467200-37468200	Active TSS	HUVEC	blood vessel
48	chr6:37467200-37468200	Active TSS	NHLF	lung
49	chr6:37467200-37468400	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr6:37467200-37468400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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