Variant report

Variant	rs11174548
Chromosome Location	chr12:62957888-62957889
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62955537..62958369-chr12:62958968..62960475,2	K562	blood:
2	chr12:62953650..62956031-chr12:62956662..62959616,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000061987	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11174429	1.00[ASN][1000 genomes]
rs11174443	1.00[ASN][1000 genomes]
rs11174444	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs11174454	1.00[ASN][1000 genomes]
rs11174457	1.00[ASN][1000 genomes]
rs11174461	1.00[ASN][1000 genomes]
rs11174462	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs11174476	1.00[ASN][1000 genomes]
rs11174479	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs11174492	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174499	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174500	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174501	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174506	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174512	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174524	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174556	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368038	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12371487	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12811821	1.00[ASN][1000 genomes]
rs12814369	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs17718211	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34339271	1.00[ASN][1000 genomes]
rs7137985	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs71465151	1.00[ASN][1000 genomes]
rs7308812	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7309464	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314752	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964242	0.93[EUR][1000 genomes]
rs7966718	0.83[EUR][1000 genomes]
rs7970822	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976993	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978244	1.00[YRI][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv469418	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv559156	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62907000-62987200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:62915800-62971600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:62917200-62995000	Weak transcription	Fetal Heart	heart
4	chr12:62917400-62960000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:62919800-62970000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:62924400-62969800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr12:62924800-62967600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:62927400-62967400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:62928000-62963400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:62928800-62995800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:62938000-62995400	Weak transcription	Stomach Mucosa	stomach
12	chr12:62944600-62989000	Weak transcription	Colonic Mucosa	Colon
13	chr12:62945000-62966000	Weak transcription	Esophagus	oesophagus
14	chr12:62948200-62958600	Weak transcription	K562	blood
15	chr12:62950200-62960800	Weak transcription	Brain Germinal Matrix	brain
16	chr12:62950200-62966800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:62950400-62995600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:62950600-62958400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr12:62950600-62975000	Weak transcription	Right Ventricle	heart
20	chr12:62950600-62982600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:62950600-62991200	Weak transcription	Gastric	stomach
22	chr12:62950600-62996200	Weak transcription	Small Intestine	intestine
23	chr12:62950800-62968200	Weak transcription	Aorta	Aorta
24	chr12:62950800-62987600	Weak transcription	Pancreas	Pancrea
25	chr12:62950800-62995000	Weak transcription	NHEK	skin
26	chr12:62951000-62966000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:62951000-62987800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:62951000-62995600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:62951200-62958800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:62951200-62961000	Weak transcription	Ovary	ovary
31	chr12:62951200-62971600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:62951200-62979600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:62951200-62986800	Weak transcription	Brain Angular Gyrus	brain
34	chr12:62951200-62988600	Weak transcription	Spleen	Spleen
35	chr12:62951200-62995200	Weak transcription	Hela-S3	cervix
36	chr12:62951200-62995600	Weak transcription	HSMMtube	muscle
37	chr12:62951400-62959000	Weak transcription	A549	lung
38	chr12:62951400-62959000	Weak transcription	HMEC	breast
39	chr12:62951400-62959800	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:62951400-62963000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:62951400-62966000	Weak transcription	Left Ventricle	heart
42	chr12:62951400-62966000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr12:62951400-62995000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:62951600-62958600	Weak transcription	NHLF	lung
45	chr12:62953200-62958600	Weak transcription	Primary T cells from cord blood	blood
46	chr12:62953400-62996000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr12:62953600-62962200	Weak transcription	Fetal Intestine Small	intestine
48	chr12:62953600-62962200	Weak transcription	Fetal Stomach	stomach
49	chr12:62954600-62958600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr12:62954800-62958600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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