Variant report

Variant	rs10843330
Chromosome Location	chr12:29305799-29305800
allele	A/C
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	IRF1	chr12:29305624-29305808	K562	blood:	n/a	n/a
2	SPI1	chr12:29305177-29305848	HL-60	blood:	n/a	chr12:29305330-29305339 chr12:29305323-29305336 chr12:29305326-29305335 chr12:29305324-29305337
3	SPI1	chr12:29304879-29305884	GM12878	blood:	n/a	chr12:29305330-29305339 chr12:29305323-29305336 chr12:29305326-29305335 chr12:29305324-29305337
4	ZNF263	chr12:29305117-29305915	HEK293-T-REx	kidney:	n/a	chr12:29305365-29305374

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29305381..29308079-chr12:29313278..29315521,2	K562	blood:

Variant related genes	Relation type
ENSG00000257258	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10771487	0.89[JPT][hapmap]
rs10843331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843333	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843334	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843336	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10843338	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11050035	0.89[EUR][1000 genomes]
rs11050039	0.89[EUR][1000 genomes]
rs11050040	0.89[EUR][1000 genomes]
rs11050046	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11050076	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11050077	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11050078	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11050095	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11050096	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11050103	0.83[CEU][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050113	0.83[CEU][hapmap];0.80[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11050125	0.81[EUR][1000 genomes]
rs11050129	0.81[EUR][1000 genomes]
rs11610684	0.86[JPT][hapmap]
rs12049941	0.81[CHB][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs12228075	0.89[EUR][1000 genomes]
rs12306316	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12581588	0.81[EUR][1000 genomes]
rs1390536	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1587186	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34844277	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6487779	0.89[JPT][hapmap]
rs73071989	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7309466	0.91[CEU][hapmap];0.80[CHB][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7971179	0.89[JPT][hapmap]

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	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29302600-29306800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:29303200-29305800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:29303200-29305800	Weak transcription	Right Atrium	heart
4	chr12:29303200-29306200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:29303200-29306200	Weak transcription	Thymus	Thymus
6	chr12:29303200-29307600	Weak transcription	Placenta	Placenta
7	chr12:29303200-29308200	Weak transcription	Left Ventricle	heart
8	chr12:29303200-29309800	Weak transcription	NHDF-Ad	bronchial
9	chr12:29303400-29305800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:29303400-29305800	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:29303400-29305800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:29303400-29305800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:29303400-29306200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:29303400-29306400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:29303400-29306800	Enhancers	Small Intestine	intestine
16	chr12:29303400-29307000	Enhancers	Fetal Intestine Large	intestine
17	chr12:29303400-29308000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:29303400-29308200	Weak transcription	Right Ventricle	heart
19	chr12:29303400-29309000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr12:29303400-29309800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:29303400-29311400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:29303400-29312200	Weak transcription	Spleen	Spleen
23	chr12:29303400-29316600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:29303400-29317000	Weak transcription	Colonic Mucosa	Colon
25	chr12:29303400-29317800	Weak transcription	Fetal Kidney	kidney
26	chr12:29303600-29305800	Weak transcription	Brain Germinal Matrix	brain
27	chr12:29303600-29308000	Weak transcription	NH-A	brain
28	chr12:29303600-29308800	Enhancers	Dnd41	blood
29	chr12:29303600-29313400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:29303800-29305800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr12:29303800-29310200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:29304000-29312600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr12:29304200-29307000	Enhancers	Fetal Intestine Small	intestine
34	chr12:29304200-29308000	Weak transcription	K562	blood
35	chr12:29304400-29305800	Weak transcription	Fetal Brain Male	brain
36	chr12:29304400-29305800	Weak transcription	Fetal Thymus	thymus
37	chr12:29304400-29305800	Weak transcription	HUVEC	blood vessel
38	chr12:29304400-29308800	Enhancers	Primary B cells from cord blood	blood
39	chr12:29304600-29305800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:29304600-29306200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:29304600-29306600	Enhancers	GM12878-XiMat	blood
42	chr12:29304600-29306800	Enhancers	Primary T cells from cord blood	blood
43	chr12:29304800-29306000	Enhancers	Duodenum Mucosa	Duodenum
44	chr12:29304800-29306400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr12:29304800-29306600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr12:29304800-29306600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr12:29304800-29307000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr12:29305000-29306000	Enhancers	Brain Anterior Caudate	brain
49	chr12:29305200-29306400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:29305200-29306600	Enhancers	Adipose Nuclei	Adipose

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