Variant report

Variant	rs9863805
Chromosome Location	chr3:156874500-156874501
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr3:156874496-156875000	K562	blood:	n/a	n/a
2	POLR2A	chr3:156874371-156879129	GM12891	blood:	n/a	n/a
3	POLR2A	chr3:156874304-156875006	MCF-7	breast:	n/a	n/a
4	POLR2A	chr3:156873921-156879347	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr3:156874146-156879345	GM12878	blood:	n/a	n/a
6	POLR2A	chr3:156874210-156875071	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr3:156873884-156878741	A549	lung:	n/a	n/a
8	POLR2A	chr3:156861007-156879269	K562	blood:	n/a	n/a
9	POLR2A	chr3:156863231-156878853	HepG2	liver:	n/a	n/a
10	HCFC1	chr3:156873857-156879327	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr3:156873300-156879147	GM12878	blood:	n/a	n/a
12	CHD1	chr3:156868741-156879284	IMR90	lung:	n/a	n/a
13	POLR2A	chr3:156874479-156875231	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr3:156863168-156879174	Hela-S3	cervix:	n/a	n/a
15	NFATC1	chr3:156874246-156875473	GM12878	blood:	n/a	n/a
16	POLR2A	chr3:156874189-156874524	GM12878	blood:	n/a	n/a
17	POLR2A	chr3:156874353-156875051	U87	brain:	n/a	n/a
18	POLR2A	chr3:156874024-156879286	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:156872801..156875141-chr3:156917968..156922076,3	K562	blood:
2	chr3:156873291..156875141-chr3:156917968..156919549,2	K562	blood:
3	chr3:156873948..156874759-chr5:168025811..168026318,2	Hela-S3	cervix:
4	chr3:156832411..156834031-chr3:156873705..156875895,2	K562	blood:
5	chr3:156836991..156839534-chr3:156873890..156875954,2	K562	blood:

No data

Variant related genes	Relation type
CCNL1	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10440022	0.90[AMR][1000 genomes]
rs11917697	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12696046	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13060940	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13064954	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13076599	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13084377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13090731	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13091531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13093524	0.90[AMR][1000 genomes]
rs13319093	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13321401	0.93[AMR][1000 genomes]
rs13324111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13326278	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28447380	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28513929	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28671546	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34154019	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34300533	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34508886	0.93[AMR][1000 genomes]
rs35196422	0.86[EUR][1000 genomes]
rs35295311	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35988323	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3749215	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs66686295	0.89[EUR][1000 genomes]
rs6764639	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71310497	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71310500	0.93[AMR][1000 genomes]
rs71310501	0.93[AMR][1000 genomes]
rs7613866	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9812766	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9814142	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9814609	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9817693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9821290	0.93[AMR][1000 genomes]
rs9827476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9829650	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9830661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9856475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9856588	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9866141	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9868982	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][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	chr3:156856000-156874600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:156858400-156876400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr3:156859400-156876200	Strong transcription	Placenta	Placenta
6	chr3:156861800-156875600	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr3:156863200-156876800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:156864000-156875600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:156864800-156874600	Strong transcription	Fetal Thymus	thymus
10	chr3:156866200-156877000	Weak transcription	Esophagus	oesophagus
11	chr3:156866400-156874600	Weak transcription	Pancreas	Pancrea
12	chr3:156866400-156877000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:156867200-156875600	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr3:156867800-156874600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:156869000-156874600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr3:156869800-156874600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:156869800-156874600	Weak transcription	Spleen	Spleen
18	chr3:156869800-156876600	Weak transcription	Lung	lung
19	chr3:156870000-156874600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr3:156870400-156874600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr3:156870800-156875600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr3:156870800-156877000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
23	chr3:156871000-156877000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:156871000-156877000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
25	chr3:156871400-156874600	Weak transcription	Left Ventricle	heart
26	chr3:156871400-156875600	Genic enhancers	Fetal Lung	lung
27	chr3:156871400-156877000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:156871600-156875200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:156871600-156875400	Enhancers	Fetal Heart	heart
30	chr3:156871600-156876400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
31	chr3:156871600-156876800	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
32	chr3:156871600-156877200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:156871600-156877200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
34	chr3:156871800-156874600	Weak transcription	Colonic Mucosa	Colon
35	chr3:156871800-156876800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:156871800-156877000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:156871800-156879200	Active TSS	Right Ventricle	heart
38	chr3:156872000-156876600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr3:156872000-156876600	Transcr. at gene 5' and 3'	HUVEC	blood vessel
40	chr3:156872000-156877000	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
41	chr3:156872000-156877200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
42	chr3:156872000-156877200	Transcr. at gene 5' and 3'	Dnd41	blood
43	chr3:156872000-156877200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
44	chr3:156872000-156877200	Transcr. at gene 5' and 3'	Osteobl	bone
45	chr3:156872000-156877800	Active TSS	Right Atrium	heart
46	chr3:156872000-156878600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
47	chr3:156872200-156874800	Genic enhancers	Primary hematopoietic stem cells	blood
48	chr3:156872200-156875200	Genic enhancers	Primary B cells from cord blood	blood
49	chr3:156872200-156875400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
50	chr3:156872200-156876000	Enhancers	Stomach Mucosa	stomach

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