Variant report

Variant	rs2285228
Chromosome Location	chr12:51383343-51383344
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51381778..51384453-chr12:51414411..51415934,2	MCF-7	breast:
2	chr12:51383022..51385187-chr12:51389944..51392124,2	MCF-7	breast:
3	chr12:51216774..51221510-chr12:51379576..51384198,5	MCF-7	breast:
4	chr12:51156134..51159042-chr12:51381885..51384053,2	MCF-7	breast:
5	chr12:51381999..51383728-chr12:51415428..51417446,2	MCF-7	breast:
6	chr12:51381359..51383388-chr12:51384461..51386679,2	K562	blood:

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction
ENSG00000110911	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs1005559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1048230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506299	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169626	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169633	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169636	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169637	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169639	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169641	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169642	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169644	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169646	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11169647	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169648	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169649	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169655	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169667	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169669	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169672	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169682	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs11519977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831810	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs11831946	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs11833022	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs12366476	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12366756	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12369278	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12369639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12369658	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12369666	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12370820	0.84[EUR][1000 genomes]
rs12371463	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12372173	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12809563	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12810174	0.83[EUR][1000 genomes]
rs12810596	0.83[EUR][1000 genomes]
rs12810659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12811508	0.82[CEU][hapmap]
rs12811658	0.83[EUR][1000 genomes]
rs12811684	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs12811777	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12812650	0.83[EUR][1000 genomes]
rs12812727	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12813309	0.83[EUR][1000 genomes]
rs12813368	0.83[EUR][1000 genomes]
rs12813728	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12817386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818033	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12819296	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12820966	0.83[EUR][1000 genomes]
rs12821444	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12822509	0.83[EUR][1000 genomes]
rs12824225	0.83[EUR][1000 genomes]
rs12824840	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12824958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12827861	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12828349	0.83[EUR][1000 genomes]
rs12828536	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12830048	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12830073	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12830422	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12831269	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12831597	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs15897	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17125137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17296192	0.82[CEU][hapmap]
rs224565	0.90[ASN][1000 genomes]
rs224577	0.81[ASN][1000 genomes]
rs224589	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs224591	0.87[ASN][1000 genomes]
rs2285230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2516742	0.86[ASN][1000 genomes]
rs2630364	0.89[ASN][1000 genomes]
rs319932	0.90[ASN][1000 genomes]
rs34514224	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34735738	0.83[EUR][1000 genomes]
rs35037088	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35262273	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35379220	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35656976	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35999440	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs407135	0.87[ASN][1000 genomes]
rs422637	0.86[ASN][1000 genomes]
rs422982	1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs440595	0.84[ASN][1000 genomes]
rs4444142	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4471501	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs454520	0.87[ASN][1000 genomes]
rs4768964	0.82[EUR][1000 genomes]
rs4768967	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs6580784	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs6580792	0.81[CEU][hapmap]
rs6580793	0.82[CEU][hapmap]
rs67025973	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67133203	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67259551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67260912	0.83[EUR][1000 genomes]
rs706801	0.93[ASN][1000 genomes]
rs706802	0.93[ASN][1000 genomes]
rs7135059	0.84[EUR][1000 genomes]
rs71445768	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71445772	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7305638	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7306293	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73090655	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7954140	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs7959075	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7959082	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7964570	0.83[EUR][1000 genomes]
rs7965566	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7972406	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7975147	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7976777	0.83[EUR][1000 genomes]
rs7978723	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs7980874	0.84[EUR][1000 genomes]
rs829022	0.93[ASN][1000 genomes]
rs853235	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs970098	0.83[EUR][1000 genomes]
rs970099	0.83[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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51354400-51383800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr12:51362800-51384400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:51363400-51384000	Weak transcription	Colonic Mucosa	Colon
4	chr12:51364600-51384400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:51372200-51384600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:51373400-51383400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:51376000-51384000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:51378000-51386800	Strong transcription	A549	lung
9	chr12:51378000-51401800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:51378400-51391200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:51378600-51393200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:51378600-51399000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:51378800-51384000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:51378800-51384400	Weak transcription	Aorta	Aorta
15	chr12:51378800-51396000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:51379400-51383400	Weak transcription	Small Intestine	intestine
17	chr12:51379400-51396000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:51379400-51396200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:51379600-51383400	Weak transcription	HMEC	breast
20	chr12:51379600-51383600	Weak transcription	NHLF	lung
21	chr12:51379600-51384000	Weak transcription	NH-A	brain
22	chr12:51379600-51384600	Weak transcription	Stomach Mucosa	stomach
23	chr12:51379600-51385200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:51379600-51389200	Weak transcription	Fetal Heart	heart
25	chr12:51379600-51395600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:51379800-51384400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:51379800-51386800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:51379800-51391000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:51379800-51394600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:51379800-51396400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:51380000-51387200	Strong transcription	Hela-S3	cervix
32	chr12:51380000-51396200	Strong transcription	Dnd41	blood
33	chr12:51380200-51387200	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:51380200-51391400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr12:51380200-51396400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:51380200-51396600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:51380200-51401800	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr12:51380200-51402200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr12:51380400-51386200	Strong transcription	Primary hematopoietic stem cells	blood
40	chr12:51380400-51386800	Strong transcription	Fetal Kidney	kidney
41	chr12:51380400-51386800	Strong transcription	K562	blood
42	chr12:51380400-51387200	Strong transcription	Primary T cells from cord blood	blood
43	chr12:51380400-51391400	Strong transcription	Brain Germinal Matrix	brain
44	chr12:51380400-51396200	Strong transcription	Fetal Brain Female	brain
45	chr12:51380400-51396200	Strong transcription	Placenta	Placenta
46	chr12:51380600-51390800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:51380600-51399600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:51380800-51386400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:51380800-51386400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:51380800-51386600	Strong transcription	Brain Substantia Nigra	brain

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