Variant report

Variant	rs12293194
Chromosome Location	chr11:73496857-73496858
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr11:73496738-73497031	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:73470211..73473572-chr11:73496692..73501846,8	MCF-7	breast:
2	chr11:73453380..73456038-chr11:73496235..73498225,2	K562	blood:
3	chr11:73496600..73498927-chr11:73587563..73589388,3	MCF-7	breast:
4	chr11:73469206..73473775-chr11:73494297..73499248,5	K562	blood:
5	chr11:73466132..73474322-chr11:73488493..73499248,27	K562	blood:

No data

Variant related genes	Relation type
MRPL48	TF binding region
ENSG00000175582	Chromatin interaction
ENSG00000181924	Chromatin interaction
ENSG00000256034	Chromatin interaction
ENSG00000175575	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1525751	0.86[AFR][1000 genomes]
rs1621654	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1670548	0.83[AFR][1000 genomes]
rs1670574	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1723834	0.86[AFR][1000 genomes]
rs1723838	0.86[AFR][1000 genomes]
rs1723839	0.86[AFR][1000 genomes]
rs1723842	0.86[AFR][1000 genomes]
rs1723844	0.86[AFR][1000 genomes]
rs1723845	0.89[AFR][1000 genomes]
rs1723846	0.86[AFR][1000 genomes]
rs1723849	0.86[AFR][1000 genomes]
rs1792195	0.86[AFR][1000 genomes]
rs1792196	0.86[AFR][1000 genomes]
rs1976913	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2444598	0.88[AFR][1000 genomes]
rs2444600	0.96[AFR][1000 genomes]
rs2444602	1.00[AMR][1000 genomes]
rs2462617	0.86[AFR][1000 genomes]
rs2511263	0.86[AFR][1000 genomes]
rs2511265	0.86[AFR][1000 genomes]
rs2511273	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2511275	1.00[AMR][1000 genomes]
rs2512627	0.85[AFR][1000 genomes]
rs4548648	0.86[AFR][1000 genomes]
rs4551800	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs594814	1.00[AMR][1000 genomes]
rs599116	1.00[AMR][1000 genomes]
rs601335	1.00[AMR][1000 genomes]
rs610280	1.00[AMR][1000 genomes]
rs620059	1.00[AMR][1000 genomes]
rs627721	1.00[AMR][1000 genomes]
rs641423	1.00[AMR][1000 genomes]
rs652229	1.00[AMR][1000 genomes]
rs7950472	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs935989	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS 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 target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3426251	chr11:73461503-73538032	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73491000-73498400	Weak transcription	Esophagus	oesophagus
2	chr11:73491000-73498600	Weak transcription	Aorta	Aorta
3	chr11:73491200-73497800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:73491200-73498000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:73491200-73498000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:73491200-73498000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:73491200-73498000	Weak transcription	A549	lung
8	chr11:73491200-73498000	Weak transcription	HSMM	muscle
9	chr11:73491200-73498200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:73491200-73498200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:73491200-73498400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:73491200-73498400	Weak transcription	Thymus	Thymus
13	chr11:73491200-73498600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:73491400-73498200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:73491400-73498200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:73491400-73498200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:73491400-73498200	Weak transcription	Adipose Nuclei	Adipose
18	chr11:73491400-73498400	Weak transcription	Primary T cells from cord blood	blood
19	chr11:73491400-73498400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr11:73491800-73498000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:73494800-73497000	Enhancers	K562	blood
22	chr11:73494800-73497800	Enhancers	Dnd41	blood
23	chr11:73495400-73497800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr11:73495400-73498200	Weak transcription	Fetal Intestine Small	intestine
25	chr11:73495400-73498400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr11:73495600-73498200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:73495600-73498200	Weak transcription	Fetal Intestine Large	intestine
28	chr11:73495600-73498400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:73495600-73498400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:73495600-73498400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:73495800-73497400	Weak transcription	Fetal Thymus	thymus
32	chr11:73495800-73498200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr11:73496000-73497800	Weak transcription	NHEK	skin
34	chr11:73496000-73498200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr11:73496000-73498400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:73496000-73498400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:73496200-73498600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr11:73496400-73498400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:73496600-73497800	Weak transcription	Hela-S3	cervix
40	chr11:73496600-73497800	Weak transcription	HepG2	liver
41	chr11:73496600-73498200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:73496600-73498200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:73496600-73498400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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