Variant report

Variant	rs2204112
Chromosome Location	chr3:150320289-150320290
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr3:150320286-150322169	K562	blood:	n/a	n/a
2	POLR2A	chr3:150319845-150320466	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:150320150-150321382	K562	blood:	n/a	n/a
4	RUNX3	chr3:150320071-150320392	GM12878	blood:	n/a	n/a
5	POLR2A	chr3:150319948-150321897	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr3:150320035-150322139	GM12878	blood:	n/a	n/a
7	MTA3	chr3:150320037-150322068	GM12878	blood:	n/a	n/a
8	POLR2A	chr3:150319975-150320582	K562	blood:	n/a	n/a
9	POLR2A	chr3:150320066-150321349	K562	blood:	n/a	n/a
10	POLR2A	chr3:150320222-150321900	GM18951	blood:	n/a	n/a
11	POLR2A	chr3:150320065-150321739	K562	blood:	n/a	n/a
12	POLR2A	chr3:150320062-150322002	GM19193	blood:	n/a	n/a
13	NRF1	chr3:150320278-150321523	SK-N-SH	brain:	n/a	chr3:150321060-150321074 chr3:150321057-150321071 chr3:150321017-150321026 chr3:150321060-150321071 chr3:150321017-150321028 chr3:150321016-150321027 chr3:150321062-150321071 chr3:150321000-150321011 chr3:150321017-150321031
14	POLR2A	chr3:150319798-150322130	GM12878	blood:	n/a	n/a
15	MXI1	chr3:150320261-150322408	IMR90	lung:	n/a	n/a
16	POLR2A	chr3:150320059-150322041	GM18505	blood:	n/a	n/a
17	POLR2A	chr3:150320028-150320451	GM12891	blood:	n/a	n/a
18	POLR2A	chr3:150319957-150322090	GM12891	blood:	n/a	n/a
19	MXI1	chr3:150319971-150322484	SK-N-SH	brain:	n/a	n/a
20	TAF1	chr3:150320128-150320519	K562	blood:	n/a	n/a
21	POLR2A	chr3:150320277-150322087	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr3:150319957-150320503	K562	blood:	n/a	n/a
23	WRNIP1	chr3:150319980-150322174	GM12878	blood:	n/a	n/a
24	HCFC1	chr3:150320201-150322492	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr3:150320242-150322035	Raji	blood:	n/a	n/a
26	POLR2A	chr3:150319866-150322102	GM12892	blood:	n/a	n/a
27	CEBPB	chr3:150320255-150321502	GM12878	blood:	n/a	n/a
28	POLR2A	chr3:150319920-150322197	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD1	chr3:150320137-150322461	IMR90	lung:	n/a	n/a
30	HEY1	chr3:150320034-150320510	K562	blood:	n/a	n/a
31	POLR2A	chr3:150320129-150321978	K562	blood:	n/a	n/a
32	POLR2A	chr3:150320081-150321943	GM12892	blood:	n/a	n/a
33	POLR2A	chr3:150319957-150320417	GM12892	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150319835..150321538-chr3:150397842..150400790,2	MCF-7	breast:
2	chr3:150260773..150268334-chr3:150317152..150324883,17	K562	blood:
3	chr3:150262222..150264859-chr3:150319269..150321349,2	K562	blood:
4	chr3:150318641..150323079-chr3:150479217..150482794,6	MCF-7	breast:
5	chr3:150319300..150322608-chr3:150420316..150423261,6	MCF-7	breast:
6	chr3:150320056..150325236-chr3:150328045..150333634,6	MCF-7	breast:
7	chr3:149955587..149957333-chr3:150319703..150322205,2	MCF-7	breast:
8	chr3:150319130..150324790-chr3:150327939..150333389,12	K562	blood:
9	chr3:150319354..150323687-chr3:150477863..150484487,11	MCF-7	breast:
10	chr3:150259884..150269236-chr3:150319275..150325391,10	MCF-7	breast:
11	chr3:150318777..150323048-chr3:150479715..150482584,4	K562	blood:
12	chr3:150320068..150322587-chr3:150419780..150423653,7	MCF-7	breast:
13	chr3:150262524..150267011-chr3:150319982..150323189,4	MCF-7	breast:
14	chr3:150298264..150303206-chr3:150320117..150322472,5	MCF-7	breast:
15	chr3:150319883..150326696-chr3:150327224..150333205,16	MCF-7	breast:
16	chr3:150319550..150322084-chr3:150479715..150481431,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198843	TF binding region
ENSG00000181788	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000271711	Chromatin interaction
ENSG00000244265	Chromatin interaction
ENSG00000144895	Chromatin interaction
ENSG00000240137	Chromatin interaction
ENSG00000244541	Chromatin interaction
ENSG00000163645	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1133494	0.97[EUR][1000 genomes]
rs13097283	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs1464517	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1818788	0.88[ASN][1000 genomes]
rs1915942	0.88[ASN][1000 genomes]
rs1915943	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2049229	0.82[EUR][1000 genomes]
rs2868947	0.82[EUR][1000 genomes]
rs6798173	0.87[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs6801796	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7433606	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7638500	0.97[EUR][1000 genomes]
rs7642917	0.96[EUR][1000 genomes]
rs9289821	0.88[ASN][1000 genomes]
rs9809820	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9819287	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9836797	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9842446	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9865177	0.88[ASN][1000 genomes]
rs9874800	0.81[EUR][1000 genomes]

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	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150265600-150320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:150265600-150320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:150303800-150320800	Weak transcription	Lung	lung
4	chr3:150303800-150320800	Weak transcription	Spleen	Spleen
5	chr3:150304000-150320600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:150304400-150320600	Weak transcription	Ovary	ovary
7	chr3:150304800-150320400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr3:150318600-150320400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:150318600-150320400	Weak transcription	NHDF-Ad	bronchial
10	chr3:150318600-150323600	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr3:150318600-150323600	Active TSS	K562	blood
12	chr3:150318800-150320400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr3:150318800-150320400	Weak transcription	HUVEC	blood vessel
14	chr3:150318800-150322400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr3:150318800-150322400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr3:150318800-150323600	Active TSS	GM12878-XiMat	blood
17	chr3:150319000-150321200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:150319200-150320400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr3:150319200-150320400	Weak transcription	Fetal Brain Male	brain
20	chr3:150319200-150320400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr3:150319200-150320600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:150319200-150320600	Weak transcription	Esophagus	oesophagus
23	chr3:150319200-150322800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:150319400-150323200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:150319800-150320400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:150319800-150320400	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr3:150320000-150320400	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr3:150320000-150320400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:150320000-150320400	Enhancers	Primary B cells from cord blood	blood
30	chr3:150320000-150320400	Enhancers	Primary B cells from peripheral blood	blood
31	chr3:150320000-150320400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr3:150320000-150320400	Enhancers	Primary hematopoietic stem cells	blood
33	chr3:150320000-150320400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr3:150320000-150320400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr3:150320000-150320400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr3:150320000-150320400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr3:150320000-150320400	Active TSS	Muscle Satellite Cultured Cells	--
38	chr3:150320000-150320400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr3:150320000-150320400	Enhancers	Brain Hippocampus Middle	brain
40	chr3:150320000-150320400	Enhancers	Colon Smooth Muscle	Colon
41	chr3:150320000-150320400	Enhancers	Fetal Heart	heart
42	chr3:150320000-150320400	Active TSS	Fetal Kidney	kidney
43	chr3:150320000-150320400	Enhancers	Stomach Mucosa	stomach
44	chr3:150320000-150320400	Flanking Active TSS	Dnd41	blood
45	chr3:150320000-150320600	Active TSS	Duodenum Mucosa	Duodenum
46	chr3:150320000-150320600	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr3:150320000-150321000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr3:150320000-150321000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:150320000-150321000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:150320000-150321400	Active TSS	Skeletal Muscle Female	skeletal muscle

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