Variant report

Variant	rs74061124
Chromosome Location	chr12:12334414-12334415
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	chr12:12333575..12335738-chr12:12341960..12344629,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11054762	1.00[ASN][1000 genomes]
rs11054765	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313063	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321230	1.00[ASN][1000 genomes]
rs57125171	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58389257	1.00[EUR][1000 genomes]
rs73275029	1.00[ASN][1000 genomes]
rs73275034	1.00[ASN][1000 genomes]
rs73275042	1.00[ASN][1000 genomes]
rs73293337	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061119	0.81[AFR][1000 genomes]
rs74061127	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061139	0.81[AFR][1000 genomes]
rs74061140	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061143	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061144	0.82[AFR][1000 genomes]
rs74061150	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061155	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061157	1.00[ASN][1000 genomes]
rs74061158	1.00[EUR][1000 genomes];1.00[ASN][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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv529005	chr12:12254756-12412795	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3427115	chr12:12262415-12432411	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1050715	chr12:12293072-12383820	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12262400-12335600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:12269600-12343200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:12272200-12344600	Weak transcription	Primary B cells from cord blood	blood
4	chr12:12279800-12342800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:12281800-12335600	Weak transcription	Psoas Muscle	Psoas
6	chr12:12288200-12342800	Weak transcription	K562	blood
7	chr12:12302200-12338400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:12303800-12335600	Weak transcription	Right Ventricle	heart
9	chr12:12304000-12353000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:12312000-12350600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:12312200-12334600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:12312200-12338000	Weak transcription	Brain Germinal Matrix	brain
13	chr12:12312200-12355800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:12312200-12362000	Weak transcription	Hela-S3	cervix
15	chr12:12312800-12337600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:12314000-12335600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:12314000-12336000	Weak transcription	Adipose Nuclei	Adipose
18	chr12:12314400-12336000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:12315400-12340200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:12315400-12371600	Weak transcription	Lung	lung
21	chr12:12317600-12335600	Weak transcription	Fetal Stomach	stomach
22	chr12:12317800-12335400	Weak transcription	Fetal Kidney	kidney
23	chr12:12318200-12335600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr12:12318200-12335600	Weak transcription	Left Ventricle	heart
25	chr12:12318200-12335600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:12325400-12335800	Weak transcription	Osteobl	bone
27	chr12:12325400-12360000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:12325600-12335000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:12325800-12335600	Weak transcription	Fetal Brain Female	brain
30	chr12:12325800-12335600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:12325800-12341000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:12328200-12335600	Weak transcription	Stomach Mucosa	stomach
33	chr12:12328400-12335600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:12328400-12339800	Weak transcription	Ovary	ovary
35	chr12:12328600-12339000	Weak transcription	Fetal Intestine Small	intestine
36	chr12:12329000-12334800	Strong transcription	Liver	Liver
37	chr12:12329600-12343200	Weak transcription	Placenta	Placenta
38	chr12:12330200-12343200	Weak transcription	GM12878-XiMat	blood
39	chr12:12330400-12334800	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:12330600-12335800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:12330600-12336000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr12:12331000-12334600	Weak transcription	Colonic Mucosa	Colon
43	chr12:12331000-12335400	Weak transcription	Fetal Brain Male	brain
44	chr12:12331800-12335600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:12332000-12334600	Strong transcription	Primary T cells from cord blood	blood
46	chr12:12332000-12335400	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:12332200-12336000	Strong transcription	HepG2	liver
48	chr12:12332400-12334600	Strong transcription	Primary hematopoietic stem cells	blood
49	chr12:12332400-12334600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:12332600-12335600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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