Variant report

Variant	rs4151671
Chromosome Location	chr6:31918903-31918904
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr6:31915905-31920972	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:31915975-31919697	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr6:31915333-31920952	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:31918537-31919031	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr6:31918756-31919718	HL-60	blood:	n/a	n/a
6	CTCF	chr6:31918860-31919010	HBMEC	blood vessel:	n/a	n/a
7	POLR2A	chr6:31915922-31919490	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr6:31917485-31920405	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:31914529-31923123	HepG2	liver:	n/a	n/a
10	POLR2A	chr6:31918394-31919685	K562	blood:	n/a	n/a
11	POLR2A	chr6:31918751-31918943	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:31918790-31919141	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr6:31915137-31920435	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr6:31918759-31919526	HepG2	liver:	n/a	n/a
15	POLR2A	chr6:31915671-31921101	HepG2	liver:	n/a	n/a
16	MAFK	chr6:31918829-31919071	HepG2	liver:	n/a	chr6:31918976-31918991
17	FOSL2	chr6:31918651-31919391	HepG2	liver:	n/a	n/a
18	MAFK	chr6:31918887-31919115	HepG2	liver:	n/a	chr6:31918976-31918991
19	POLR2A	chr6:31918773-31919116	HepG2	liver:	n/a	n/a
20	POLR2A	chr6:31916546-31919600	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr6:31918655-31919423	K562	blood:	n/a	n/a
22	POLR2A	chr6:31918552-31918970	GM12892	blood:	n/a	n/a
23	POLR2A	chr6:31912538-31923721	HepG2	liver:	n/a	n/a
24	POLR2A	chr6:31917726-31920816	HepG2	liver:	n/a	n/a
25	POLR2A	chr6:31917487-31919068	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr6:31915769-31919475	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr6:31917821-31919876	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr6:31918175-31919157	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr6:31918770-31919184	GM12892	blood:	n/a	n/a
30	POLR2A	chr6:31916029-31919337	K562	blood:	n/a	n/a
31	POLR2A	chr6:31914643-31919725	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31862879..31872535-chr6:31911667..31928766,47	MCF-7	breast:
2	chr6:31864040..31872511-chr6:31917614..31930102,27	MCF-7	breast:
3	chr6:31618645..31621732-chr6:31914935..31918984,4	K562	blood:
4	chr6:31801272..31804221-chr6:31918478..31920926,2	K562	blood:
5	chr6:31795636..31798245-chr6:31918876..31922534,3	MCF-7	breast:
6	chr6:31864115..31868338-chr6:31917147..31921993,5	K562	blood:

No data

Variant related genes	Relation type
CFB	TF binding region
ENSG00000201823	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000204366	Chromatin interaction
ENSG00000204388	Chromatin interaction
ENSG00000166278	Chromatin interaction
ENSG00000204444	Chromatin interaction
ENSG00000204463	Chromatin interaction
ENSG00000204371	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs17201417	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs17201560	0.87[AMR][1000 genomes]
rs17207748	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4151667	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4151672	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332739	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9332741	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
2	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
3	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
5	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
6	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
7	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
9	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
10	nsv601950	chr6:31785438-32492308	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
11	nsv601951	chr6:31785438-32496748	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
12	nsv601955	chr6:31785453-32484368	Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
13	nsv601956	chr6:31785453-32492308	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
14	nsv601961	chr6:31868322-32484368	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
15	nsv427751	chr6:31871512-32092843	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
16	nsv428141	chr6:31871512-32092843	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
17	esv2758043	chr6:31871512-32209113	Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
18	esv2759415	chr6:31871512-32209113	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
19	nsv830628	chr6:31887554-31947600	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
20	nsv933250	chr6:31905060-32008005	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
21	nsv934279	chr6:31905060-32013902	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
22	nsv884512	chr6:31908470-31933161	Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4151671	DOM3Z	cis	lymphoblastoid	seeQTL
rs4151671	CCHCR1	cis	lymphoblastoid	seeQTL
rs4151671	HLA-B	cis	lymphoblastoid	seeQTL
rs4151671	DOM3Z	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31908800-31919400	Weak transcription	Ovary	ovary
2	chr6:31913200-31920800	Weak transcription	Small Intestine	intestine
3	chr6:31913600-31919000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr6:31913800-31919400	Weak transcription	GM12878-XiMat	blood
5	chr6:31914200-31919000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:31914200-31919000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:31914200-31919200	Weak transcription	Aorta	Aorta
8	chr6:31914200-31919200	Weak transcription	HUVEC	blood vessel
9	chr6:31914200-31919400	Weak transcription	Left Ventricle	heart
10	chr6:31914200-31919600	Weak transcription	HSMMtube	muscle
11	chr6:31914200-31926000	Weak transcription	Right Atrium	heart
12	chr6:31914400-31919000	Weak transcription	Colon Smooth Muscle	Colon
13	chr6:31914400-31919200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr6:31914600-31919000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr6:31914600-31919000	Weak transcription	Right Ventricle	heart
16	chr6:31914600-31919200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:31914600-31919400	Weak transcription	HMEC	breast
18	chr6:31914800-31919200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:31914800-31919400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr6:31914800-31922400	Weak transcription	Stomach Mucosa	stomach
21	chr6:31915400-31919200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr6:31915800-31919000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:31916200-31919400	Weak transcription	Dnd41	blood
24	chr6:31916600-31919000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr6:31916600-31919200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr6:31916800-31919200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr6:31916800-31919400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr6:31916800-31919600	Weak transcription	Fetal Lung	lung
29	chr6:31916800-31919800	Weak transcription	Fetal Brain Male	brain
30	chr6:31917000-31919000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr6:31917000-31919000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr6:31917000-31919200	Weak transcription	NHEK	skin
33	chr6:31917000-31919200	Weak transcription	Osteobl	bone
34	chr6:31917000-31919400	Weak transcription	HSMM	muscle
35	chr6:31917000-31920600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr6:31917000-31925000	Strong transcription	Spleen	Spleen
37	chr6:31917200-31919000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:31917200-31919000	Weak transcription	Fetal Intestine Large	intestine
39	chr6:31917200-31919000	Weak transcription	NH-A	brain
40	chr6:31917200-31919200	Weak transcription	NHDF-Ad	bronchial
41	chr6:31917200-31921400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr6:31917400-31919000	Genic enhancers	Placenta	Placenta
43	chr6:31917400-31920600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr6:31917600-31919000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:31917600-31921000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr6:31917600-31922400	Strong transcription	Fetal Thymus	thymus
47	chr6:31917600-31925000	Strong transcription	Lung	lung
48	chr6:31917600-31925600	Weak transcription	Fetal Heart	heart
49	chr6:31917800-31920000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:31917800-31925000	Strong transcription	NHLF	lung

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