Variant report

Variant	rs3742046
Chromosome Location	chr12:120124697-120124698
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120118680..120120243-chr12:120122175..120124778,2	MCF-7	breast:
2	chr12:120105122..120114412-chr12:120115205..120125435,13	MCF-7	breast:
3	chr12:120122749..120126442-chr12:120127143..120130647,6	K562	blood:

Variant related genes	Relation type
ENSG00000248636	Chromatin interaction
ENSG00000111725	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10849699	0.87[EUR][1000 genomes]
rs11064877	0.84[CHB][hapmap];0.97[ASN][1000 genomes]
rs11064878	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11064902	1.00[EUR][1000 genomes]
rs11064910	0.87[EUR][1000 genomes]
rs11064913	0.87[EUR][1000 genomes]
rs11064915	0.87[EUR][1000 genomes]
rs11064918	0.87[EUR][1000 genomes]
rs11064920	0.87[EUR][1000 genomes]
rs11064926	1.00[EUR][1000 genomes]
rs11064929	1.00[EUR][1000 genomes]
rs11064930	1.00[EUR][1000 genomes]
rs11064931	1.00[EUR][1000 genomes]
rs11064933	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11064934	1.00[EUR][1000 genomes]
rs11064935	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11064936	1.00[EUR][1000 genomes]
rs11064937	1.00[EUR][1000 genomes]
rs11064938	1.00[EUR][1000 genomes]
rs11064939	1.00[EUR][1000 genomes]
rs11064940	1.00[EUR][1000 genomes]
rs11064941	1.00[EUR][1000 genomes]
rs11064942	1.00[EUR][1000 genomes]
rs11064943	1.00[TSI][hapmap]
rs11064944	1.00[EUR][1000 genomes]
rs12231774	0.87[EUR][1000 genomes]
rs280581	0.87[EUR][1000 genomes]
rs280590	0.82[JPT][hapmap]
rs3809307	0.87[EUR][1000 genomes]
rs55680945	1.00[EUR][1000 genomes]
rs57336895	0.87[EUR][1000 genomes]
rs57617020	1.00[EUR][1000 genomes]
rs58261374	1.00[EUR][1000 genomes]
rs58974044	1.00[EUR][1000 genomes]
rs59953935	1.00[EUR][1000 genomes]
rs60782728	1.00[EUR][1000 genomes]
rs7966776	1.00[EUR][1000 genomes]
rs7971089	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7975107	0.87[EUR][1000 genomes]
rs7978181	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120108200-120161000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120112600-120130400	Weak transcription	Right Atrium	heart
3	chr12:120116800-120201800	Weak transcription	Fetal Heart	heart
4	chr12:120117000-120145800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:120119200-120125800	Enhancers	Fetal Kidney	kidney
6	chr12:120119200-120130200	Weak transcription	Brain Angular Gyrus	brain
7	chr12:120119200-120135400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:120119200-120141200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:120119400-120124800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:120119400-120125200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:120119600-120130200	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:120119600-120147000	Weak transcription	Brain Substantia Nigra	brain
13	chr12:120119800-120125400	Weak transcription	Hela-S3	cervix
14	chr12:120119800-120149800	Weak transcription	Placenta	Placenta
15	chr12:120120000-120124800	Weak transcription	HMEC	breast
16	chr12:120120000-120129600	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:120120000-120135000	Weak transcription	Esophagus	oesophagus
18	chr12:120120000-120135200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:120120200-120148000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:120120400-120126800	Enhancers	Duodenum Mucosa	Duodenum
21	chr12:120120400-120129400	Weak transcription	HSMM	muscle
22	chr12:120120400-120130200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:120120400-120137200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:120120400-120145600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:120120600-120128400	Weak transcription	K562	blood
26	chr12:120120800-120126400	Enhancers	Fetal Muscle Leg	muscle
27	chr12:120120800-120137600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:120121000-120125600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:120121000-120151800	Weak transcription	Primary T cells from cord blood	blood
30	chr12:120121200-120125400	Weak transcription	GM12878-XiMat	blood
31	chr12:120121200-120173400	Weak transcription	Primary B cells from cord blood	blood
32	chr12:120121400-120130400	Weak transcription	NH-A	brain
33	chr12:120121600-120129400	Weak transcription	HUVEC	blood vessel
34	chr12:120122000-120129400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:120122200-120130200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:120122200-120160800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:120122400-120126800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr12:120122400-120127000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr12:120123200-120124800	Weak transcription	A549	lung
40	chr12:120123200-120126200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr12:120123200-120128400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr12:120123400-120126600	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr12:120123400-120128800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:120123400-120136200	Strong transcription	Thymus	Thymus
45	chr12:120123400-120182000	Strong transcription	Dnd41	blood
46	chr12:120123600-120125200	Enhancers	Liver	Liver
47	chr12:120123600-120126200	Enhancers	Adipose Nuclei	Adipose
48	chr12:120123600-120127200	Weak transcription	Osteobl	bone
49	chr12:120123600-120129000	Weak transcription	Small Intestine	intestine
50	chr12:120123600-120130400	Weak transcription	Psoas Muscle	Psoas

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