Variant report

Variant	rs6441114
Chromosome Location	chr3:156876502-156876503
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:156875954-156876583	U87	brain:	n/a	n/a
2	POLR2A	chr3:156875169-156879293	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr3:156876034-156879187	GM12892	blood:	n/a	n/a
4	POLR2A	chr3:156876253-156879191	HepG2	liver:	n/a	n/a
5	POLR2A	chr3:156875365-156879216	IMR90	lung:	n/a	n/a
6	POLR2A	chr3:156875302-156879130	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr3:156874371-156879129	GM12891	blood:	n/a	n/a
8	POLR2A	chr3:156873921-156879347	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr3:156874146-156879345	GM12878	blood:	n/a	n/a
10	POLR2A	chr3:156875610-156878980	GM12892	blood:	n/a	n/a
11	POLR2A	chr3:156875705-156876744	GM12891	blood:	n/a	n/a
12	POLR2A	chr3:156875313-156876762	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr3:156875623-156879028	HepG2	liver:	n/a	n/a
14	POLR2A	chr3:156876477-156878599	K562	blood:	n/a	n/a
15	TBL1XR1	chr3:156876471-156876952	K562	blood:	n/a	n/a
16	POLR2A	chr3:156875549-156879255	GM12878	blood:	n/a	n/a
17	POLR2A	chr3:156875723-156879141	GM18505	blood:	n/a	n/a
18	POLR2A	chr3:156873884-156878741	A549	lung:	n/a	n/a
19	POLR2A	chr3:156861007-156879269	K562	blood:	n/a	n/a
20	POLR2A	chr3:156875514-156879099	GM12878	blood:	n/a	n/a
21	POLR2A	chr3:156863231-156878853	HepG2	liver:	n/a	n/a
22	HCFC1	chr3:156873857-156879327	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr3:156873300-156879147	GM12878	blood:	n/a	n/a
24	POLR2A	chr3:156875601-156879028	PANC-1	pancreas:	n/a	n/a
25	CHD1	chr3:156876272-156878893	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr3:156876025-156877223	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr3:156875088-156879191	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr3:156875955-156878974	K562	blood:	n/a	n/a
29	POLR2A	chr3:156875522-156876777	K562	blood:	n/a	n/a
30	POLR2A	chr3:156876269-156879240	K562	blood:	n/a	n/a
31	CHD1	chr3:156868741-156879284	IMR90	lung:	n/a	n/a
32	POLR2A	chr3:156863168-156879174	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr3:156876444-156879239	SK-N-MC	brain:	n/a	n/a
34	POLR2A	chr3:156874024-156879286	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr3:156875698-156876747	PANC-1	pancreas:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:156806442..156808690-chr3:156876399..156878751,3	K562	blood:
2	chr3:156271311..156273163-chr3:156875258..156877901,2	MCF-7	breast:
3	chr3:156533566..156537799-chr3:156875553..156879495,5	MCF-7	breast:
4	chr3:156270403..156273229-chr3:156876136..156878579,3	K562	blood:
5	chr3:156391251..156395598-chr3:156875832..156879722,8	K562	blood:
6	chr3:156542707..156546513-chr3:156875626..156880471,4	K562	blood:
7	chr3:156390449..156395705-chr3:156876136..156879645,10	MCF-7	breast:

No data

Variant related genes	Relation type
CCNL1	TF binding region
ENSG00000241770	TF binding region
ENSG00000241135	Chromatin interaction
ENSG00000114850	Chromatin interaction
ENSG00000163659	Chromatin interaction
ENSG00000240875	Chromatin interaction
ENSG00000243926	Chromatin interaction
ENSG00000197980	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10212545	0.85[EUR][1000 genomes]
rs10451871	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10451916	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1046938	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11926167	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12629549	0.88[EUR][1000 genomes]
rs12637518	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12696045	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13061214	0.82[ASN][1000 genomes]
rs13081036	0.82[ASN][1000 genomes]
rs13081038	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13084070	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13084522	0.81[EUR][1000 genomes]
rs1392799	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1500925	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1587534	0.84[EUR][1000 genomes]
rs1587535	0.82[ASN][1000 genomes]
rs1608127	0.82[ASN][1000 genomes]
rs16827350	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2088814	0.88[EUR][1000 genomes]
rs2133952	0.88[EUR][1000 genomes]
rs28384296	0.82[EUR][1000 genomes]
rs35217153	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4368452	0.89[EUR][1000 genomes]
rs4383468	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4563363	0.89[EUR][1000 genomes]
rs4632503	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4680342	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4680344	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4680346	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4680348	0.84[EUR][1000 genomes]
rs6441121	0.89[EUR][1000 genomes]
rs6441122	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6441123	0.82[ASN][1000 genomes]
rs67196056	0.85[EUR][1000 genomes]
rs6767619	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6773061	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6780831	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6781991	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6783595	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6789178	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6805114	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6808284	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6808457	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6809003	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6809394	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7620178	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7625059	0.82[ASN][1000 genomes]
rs7636185	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7638194	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7642179	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7647643	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9289978	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9289979	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9811195	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9827676	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9831830	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9838724	0.87[EUR][1000 genomes]
rs9848409	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9849168	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9858423	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9861469	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9867618	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349885	chr3:156685409-156878910	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
2	nsv829766	chr3:156811536-157020551	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv520331	chr3:156858300-156915650	Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156848600-156876600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:156855400-156877000	Weak transcription	Gastric	stomach
3	chr3:156863200-156876800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:156866200-156877000	Weak transcription	Esophagus	oesophagus
5	chr3:156866400-156877000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:156869800-156876600	Weak transcription	Lung	lung
7	chr3:156870800-156877000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
8	chr3:156871000-156877000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:156871000-156877000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
10	chr3:156871400-156877000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:156871600-156876800	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
12	chr3:156871600-156877200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:156871600-156877200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
14	chr3:156871800-156876800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:156871800-156877000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:156871800-156879200	Active TSS	Right Ventricle	heart
17	chr3:156872000-156876600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr3:156872000-156876600	Transcr. at gene 5' and 3'	HUVEC	blood vessel
19	chr3:156872000-156877000	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
20	chr3:156872000-156877200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
21	chr3:156872000-156877200	Transcr. at gene 5' and 3'	Dnd41	blood
22	chr3:156872000-156877200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
23	chr3:156872000-156877200	Transcr. at gene 5' and 3'	Osteobl	bone
24	chr3:156872000-156877800	Active TSS	Right Atrium	heart
25	chr3:156872000-156878600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
26	chr3:156872200-156877000	Transcr. at gene 5' and 3'	HMEC	breast
27	chr3:156872200-156877200	Transcr. at gene 5' and 3'	A549	lung
28	chr3:156872200-156879000	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
29	chr3:156872400-156876600	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr3:156872400-156876600	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
31	chr3:156872400-156876800	Transcr. at gene 5' and 3'	NHLF	lung
32	chr3:156872400-156877000	Transcr. at gene 5' and 3'	K562	blood
33	chr3:156872400-156877200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
34	chr3:156872400-156877200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:156872400-156877200	Transcr. at gene 5' and 3'	NHEK	skin
36	chr3:156872400-156879200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:156872600-156877800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
38	chr3:156873000-156877200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
39	chr3:156873200-156877200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
40	chr3:156873600-156876600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:156873600-156877000	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:156873600-156877200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:156873800-156877000	Transcr. at gene 5' and 3'	NH-A	brain
44	chr3:156873800-156877200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:156873800-156877800	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr3:156874000-156876600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
47	chr3:156874000-156876600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:156874000-156876800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:156874000-156876800	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
50	chr3:156874200-156876800	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain

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