Variant report

Variant	rs2764202
Chromosome Location	chr6:34708896-34708897
allele	G/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	TBP	chr6:34708778-34709056	K562	blood:	n/a	n/a
2	MYC	chr6:34708831-34709031	K562	blood:	n/a	chr6:34708969-34708979 chr6:34708956-34708967
3	YY1	chr6:34708768-34708997	K562	blood:	n/a	n/a
4	YY1	chr6:34708826-34709049	K562	blood:	n/a	n/a
5	MAX	chr6:34708752-34709049	K562	blood:	n/a	chr6:34708969-34708979 chr6:34708956-34708967

No.	Distal block	Cell Line	Cell type
1	chr6:34665132..34667717-chr6:34706629..34708944,2	MCF-7	breast:
2	chr6:34706864..34709056-chr6:34722827..34726268,3	K562	blood:
3	chr6:34707099..34709785-chr6:34713149..34715872,2	K562	blood:
4	chr6:34708225..34709906-chr6:34758782..34761089,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000217130	TF binding region
ENSG00000065060	Chromatin interaction
ENSG00000124562	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs16894102	0.84[ASN][1000 genomes]
rs2064253	0.82[EUR][1000 genomes]
rs2236392	0.85[ASN][1000 genomes]
rs2252551	0.81[EUR][1000 genomes]
rs2744948	0.83[EUR][1000 genomes]
rs2744952	0.81[EUR][1000 genomes]
rs2744953	0.86[EUR][1000 genomes]
rs2764199	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2764200	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2814954	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2814965	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2814998	0.81[EUR][1000 genomes]
rs2815000	0.81[EUR][1000 genomes]
rs2815003	0.83[EUR][1000 genomes]
rs3736896	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3798351	0.85[ASN][1000 genomes]
rs3800455	0.80[ASN][1000 genomes]
rs3800456	0.89[EUR][1000 genomes]
rs4711399	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56842618	0.85[ASN][1000 genomes]
rs57645599	0.82[ASN][1000 genomes]
rs57916801	0.82[ASN][1000 genomes]
rs59014029	0.82[ASN][1000 genomes]
rs59884600	0.83[ASN][1000 genomes]
rs60410089	0.85[ASN][1000 genomes]
rs6906500	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6932930	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6939345	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73415706	0.86[ASN][1000 genomes]
rs73415742	0.87[ASN][1000 genomes]
rs73415758	0.86[ASN][1000 genomes]
rs73415760	0.86[ASN][1000 genomes]
rs73415779	0.85[ASN][1000 genomes]
rs73415781	0.85[ASN][1000 genomes]
rs7739335	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7751664	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7752237	0.90[EUR][1000 genomes]
rs7772600	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9296126	0.87[EUR][1000 genomes]
rs9368829	0.85[EUR][1000 genomes]
rs9380451	0.89[EUR][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	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS 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	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers 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 miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv830640	chr6:34542489-34714677	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv1032557	chr6:34565802-34802008	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv538196	chr6:34565802-34802008	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv508401	chr6:34669708-34710302	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv885795	chr6:34704613-34823187	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
15	nsv965713	chr6:34708188-34713851	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2764202	SNRPC	Cis_1M	lymphoblastoid	RTeQTL
rs2764202	UHRF1BP1	cis	Adipose Subcutaneous	GTEx
rs2764202	C6orf107	Cis_1M	lymphoblastoid	RTeQTL
rs2764202	UHRF1BP1	cis	Whole Blood	GTEx
rs2764202	UHRF1BP1	cis	Artery Tibial	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34698000-34714000	Weak transcription	Esophagus	oesophagus
2	chr6:34699800-34712200	Weak transcription	Stomach Mucosa	stomach
3	chr6:34706400-34712800	Enhancers	HepG2	liver
4	chr6:34707000-34709000	Enhancers	Fetal Intestine Large	intestine
5	chr6:34707000-34709000	Enhancers	K562	blood
6	chr6:34707400-34709000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:34707600-34709000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr6:34707600-34709000	Enhancers	NHEK	skin
9	chr6:34708400-34712800	Weak transcription	A549	lung
10	chr6:34708600-34711200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:34708600-34712200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:34708600-34712200	Weak transcription	Fetal Intestine Small	intestine
13	chr6:34708600-34712600	Weak transcription	Hela-S3	cervix
14	chr6:34708600-34713000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr6:34708600-34713200	Weak transcription	Liver	Liver
16	chr6:34708800-34709400	Enhancers	Small Intestine	intestine
17	chr6:34708800-34711400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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