Variant report

Variant	rs74082033
Chromosome Location	chr12:46629260-46629261
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46628368..46630822-chr12:46653523..46656225,2	K562	blood:
2	chr12:46611489..46616057-chr12:46626284..46631509,6	MCF-7	breast:
3	chr12:46627894..46631115-chr12:46763842..46766844,3	K562	blood:
4	chr12:46626606..46630930-chr12:46637487..46640302,3	K562	blood:
5	chr12:46616647..46618476-chr12:46627420..46629335,2	K562	blood:

Variant related genes	Relation type
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11830080	1.00[AMR][1000 genomes]
rs11837634	1.00[AMR][1000 genomes]
rs2085682	1.00[AMR][1000 genomes]
rs55698768	1.00[AMR][1000 genomes]
rs56160202	1.00[AMR][1000 genomes]
rs74081912	1.00[AMR][1000 genomes]
rs74082237	1.00[AMR][1000 genomes]
rs74083751	1.00[AMR][1000 genomes]
rs74083758	1.00[AMR][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	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46592800-46654200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:46597600-46659600	Weak transcription	Colonic Mucosa	Colon
3	chr12:46604000-46633800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:46604000-46637400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:46610600-46640000	Weak transcription	Esophagus	oesophagus
6	chr12:46613800-46639800	Weak transcription	Lung	lung
7	chr12:46615600-46632400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:46615600-46636600	Weak transcription	Brain Anterior Caudate	brain
9	chr12:46615800-46637800	Weak transcription	Dnd41	blood
10	chr12:46615800-46653800	Weak transcription	NH-A	brain
11	chr12:46616000-46640600	Strong transcription	Fetal Thymus	thymus
12	chr12:46616000-46650400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:46616200-46636600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:46616400-46637200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:46616400-46637800	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:46616400-46653600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:46616800-46638600	Strong transcription	HMEC	breast
18	chr12:46616800-46639800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:46616800-46641600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:46617000-46636800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:46617000-46637800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
22	chr12:46617000-46653000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:46617200-46636200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:46617200-46639000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:46617200-46640200	Strong transcription	Hela-S3	cervix
26	chr12:46618400-46632200	Weak transcription	Brain Germinal Matrix	brain
27	chr12:46618400-46639800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:46618400-46639800	Weak transcription	Spleen	Spleen
29	chr12:46618400-46641400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:46618400-46653800	Weak transcription	HSMMtube	muscle
31	chr12:46618600-46634200	Weak transcription	Fetal Stomach	stomach
32	chr12:46618600-46639800	Weak transcription	Aorta	Aorta
33	chr12:46618800-46633200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:46619200-46638800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:46619400-46639800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr12:46619600-46631400	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:46619600-46633400	Weak transcription	Left Ventricle	heart
38	chr12:46619600-46638200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:46619600-46639800	Weak transcription	Psoas Muscle	Psoas
40	chr12:46620400-46636400	Strong transcription	GM12878-XiMat	blood
41	chr12:46622200-46631200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:46622200-46637800	Weak transcription	Fetal Brain Female	brain
43	chr12:46622400-46634200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr12:46622400-46649600	Weak transcription	Small Intestine	intestine
45	chr12:46622400-46650800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:46623000-46630000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr12:46623000-46631600	Weak transcription	Fetal Intestine Large	intestine
48	chr12:46623000-46632400	Weak transcription	HUVEC	blood vessel
49	chr12:46623200-46631600	Weak transcription	Placenta	Placenta
50	chr12:46623200-46632400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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