Variant report

Variant	rs2996030
Chromosome Location	chr12:120168926-120168927
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120166136..120169033-chr12:120170815..120173425,2	K562	blood:
2	chr12:120150096..120151864-chr12:120167866..120170489,2	MCF-7	breast:
3	chr12:120154135..120156051-chr12:120168867..120171241,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122966	Chromatin interaction
ENSG00000221323	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10849691	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10849692	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11064884	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1122119	0.80[EUR][1000 genomes]
rs12296121	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs175877	0.90[ASN][1000 genomes]
rs202984	0.86[ASN][1000 genomes]
rs203327	0.83[ASN][1000 genomes]
rs2285595	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs278109	0.90[ASN][1000 genomes]
rs278111	0.90[ASN][1000 genomes]
rs278115	0.88[ASN][1000 genomes]
rs278117	0.86[ASN][1000 genomes]
rs278118	0.86[ASN][1000 genomes]
rs278126	0.84[YRI][hapmap]
rs278137	0.85[ASN][1000 genomes]
rs278141	0.85[ASN][1000 genomes]
rs2936830	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2936831	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2936832	0.87[ASN][1000 genomes]
rs2952403	0.82[ASN][1000 genomes]
rs2952444	0.81[ASN][1000 genomes]
rs2996027	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2996028	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2996029	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3213625	0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3213626	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35070805	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3956827	0.86[EUR][1000 genomes]
rs402811	0.85[ASN][1000 genomes]
rs404447	0.86[ASN][1000 genomes]
rs4766946	0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766947	0.89[ASN][1000 genomes]
rs4767839	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767841	0.82[ASN][1000 genomes]
rs7131914	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7132952	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7299963	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7303046	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7961569	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs904655	0.86[EUR][1000 genomes]

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120116800-120201800	Weak transcription	Fetal Heart	heart
2	chr12:120121200-120173400	Weak transcription	Primary B cells from cord blood	blood
3	chr12:120123400-120182000	Strong transcription	Dnd41	blood
4	chr12:120130800-120182200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:120143800-120211200	Weak transcription	Fetal Brain Male	brain
6	chr12:120149400-120224800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:120151600-120196600	Weak transcription	Gastric	stomach
8	chr12:120151800-120208400	Weak transcription	Fetal Brain Female	brain
9	chr12:120151800-120218600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:120154000-120177200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:120154800-120170600	Weak transcription	Fetal Kidney	kidney
12	chr12:120154800-120171400	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:120154800-120173400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:120154800-120174600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:120154800-120186000	Weak transcription	NH-A	brain
16	chr12:120154800-120209600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:120155000-120170000	Weak transcription	Hela-S3	cervix
18	chr12:120155000-120171400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:120155000-120172800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:120156200-120171600	Weak transcription	Lung	lung
21	chr12:120156600-120174000	Weak transcription	Esophagus	oesophagus
22	chr12:120156600-120221400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:120156800-120171800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:120156800-120173000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:120156800-120182600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr12:120157800-120170600	Weak transcription	NHLF	lung
27	chr12:120157800-120171400	Weak transcription	Fetal Lung	lung
28	chr12:120158000-120171200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:120158000-120173000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:120158000-120176800	Weak transcription	Spleen	Spleen
31	chr12:120158000-120186200	Weak transcription	Brain Germinal Matrix	brain
32	chr12:120158000-120186400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:120158200-120172000	Weak transcription	Brain Angular Gyrus	brain
34	chr12:120158400-120170400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:120159600-120171400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:120160000-120170400	Weak transcription	HSMM	muscle
37	chr12:120162800-120174400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:120163600-120186400	Weak transcription	HUVEC	blood vessel
39	chr12:120163800-120170400	Weak transcription	HepG2	liver
40	chr12:120163800-120171800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:120163800-120180000	Weak transcription	Brain Substantia Nigra	brain
42	chr12:120165000-120170600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:120165200-120171200	Weak transcription	K562	blood
44	chr12:120166200-120170400	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:120166200-120170600	Weak transcription	Primary T cells from cord blood	blood
46	chr12:120166400-120169600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr12:120166400-120170400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr12:120166400-120171400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:120166600-120171400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:120166600-120171600	Weak transcription	Brain Anterior Caudate	brain

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