Variant report

Variant	rs12304233
Chromosome Location	chr12:4465340-4465341
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:4464912..4465712-chr12:4530622..4531249,2	MCF-7	breast:
2	chr12:4465014..4465763-chr12:4530635..4531275,2	K562	blood:
3	chr12:4464997..4465778-chr12:4635809..4636743,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10450716	1.00[CEU][hapmap];0.82[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10774217	1.00[CEU][hapmap]
rs10849031	1.00[CEU][hapmap]
rs10849033	1.00[CEU][hapmap]
rs10849041	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11063088	1.00[CEU][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11063089	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11063106	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11829926	1.00[CEU][hapmap]
rs13312756	0.95[JPT][hapmap];0.89[EUR][1000 genomes]
rs13312762	0.89[EUR][1000 genomes]
rs13312764	0.89[EUR][1000 genomes]
rs17782421	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17782469	0.86[JPT][hapmap];0.89[EUR][1000 genomes]
rs17782499	0.85[JPT][hapmap]
rs3935187	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4238015	1.00[CEU][hapmap]
rs4444158	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4766233	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4766234	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4766235	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60591544	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61006360	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61309048	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71583759	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7398987	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7485543	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7976596	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv468985	chr12:4423612-4473329	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv557122	chr12:4423612-4473329	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv519278	chr12:4441906-4475194	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv528492	chr12:4462161-4473329	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv523578	chr12:4462505-4467921	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4431200-4465800	Weak transcription	Psoas Muscle	Psoas
2	chr12:4441000-4465600	Weak transcription	Fetal Intestine Large	intestine
3	chr12:4449400-4466000	Weak transcription	NHDF-Ad	bronchial
4	chr12:4461800-4467800	Weak transcription	NHEK	skin
5	chr12:4462000-4465800	Weak transcription	Hela-S3	cervix
6	chr12:4462000-4466400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:4462000-4467400	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:4462200-4466800	Weak transcription	NHLF	lung
9	chr12:4462200-4467000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:4462200-4468000	Weak transcription	Fetal Brain Female	brain
11	chr12:4462400-4465400	Weak transcription	Osteobl	bone
12	chr12:4462400-4465800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:4462600-4467000	Weak transcription	HSMM	muscle
14	chr12:4462600-4468000	Weak transcription	Primary B cells from cord blood	blood
15	chr12:4462800-4465400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:4462800-4465400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:4462800-4466000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:4462800-4466400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:4462800-4467800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:4462800-4467800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:4462800-4467800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr12:4462800-4468200	Weak transcription	GM12878-XiMat	blood
23	chr12:4463000-4465800	Weak transcription	Aorta	Aorta
24	chr12:4463000-4465800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:4463000-4466400	Weak transcription	Fetal Thymus	thymus
26	chr12:4463000-4467600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:4463000-4467800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:4463000-4467800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:4463200-4465800	Strong transcription	A549	lung
30	chr12:4463600-4466400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:4463600-4466400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:4463600-4467800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:4463800-4465600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:4463800-4466200	Weak transcription	Dnd41	blood
35	chr12:4463800-4466400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:4463800-4466400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:4463800-4466400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:4463800-4466600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:4463800-4468000	Weak transcription	HMEC	breast
40	chr12:4464000-4468600	Weak transcription	HUVEC	blood vessel
41	chr12:4464000-4469200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr12:4464800-4465400	Enhancers	Right Ventricle	heart
43	chr12:4464800-4466800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr12:4464800-4468200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:4465000-4465400	ZNF genes & repeats	Gastric	stomach
46	chr12:4465000-4465400	Enhancers	Left Ventricle	heart
47	chr12:4465000-4465400	Genic enhancers	Right Atrium	heart
48	chr12:4465000-4465800	Enhancers	HSMMtube	muscle
49	chr12:4465000-4467400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:4465200-4465400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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