Variant report

Variant	rs1005559
Chromosome Location	chr12:51414232-51414233
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51404293..51409685-chr12:51411834..51415817,7	K562	blood:
2	chr12:51399342..51401047-chr12:51411160..51415071,3	MCF-7	breast:
3	chr12:51400476..51402543-chr12:51413177..51415627,2	K562	blood:
4	chr12:51155647..51158511-chr12:51413575..51415809,2	K562	blood:
5	chr12:51408556..51414296-chr12:51415375..51421759,13	MCF-7	breast:
6	chr12:51386892..51388716-chr12:51412820..51415080,2	K562	blood:
7	chr12:51412418..51415100-chr12:51610730..51614429,3	K562	blood:
8	chr12:51413146..51415760-chr12:51440931..51443529,2	MCF-7	breast:
9	chr12:51403352..51405981-chr12:51411330..51414858,3	K562	blood:
10	chr12:51403202..51405028-chr12:51412638..51414252,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000272028	Chromatin interaction

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs1048230	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]
rs10506298	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10506299	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169626	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11169633	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11169636	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169637	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11169639	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11169641	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[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];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11169644	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169646	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11169647	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169648	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169649	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169654	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]
rs11169655	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169661	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169667	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169669	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169670	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169671	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169672	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169682	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs11169712	0.81[EUR][1000 genomes]
rs11519977	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11831810	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs11831946	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs11833022	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs11834746	0.81[EUR][1000 genomes]
rs12366476	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12366756	1.00[CEU][hapmap];0.86[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];0.97[ASN][1000 genomes]
rs12369278	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12369639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12369658	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12369666	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12370820	0.88[EUR][1000 genomes]
rs12371463	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12372173	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12809563	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12810174	0.86[EUR][1000 genomes]
rs12810596	0.86[EUR][1000 genomes]
rs12810659	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12810700	0.81[EUR][1000 genomes]
rs12811508	0.81[CEU][hapmap]
rs12811658	0.86[EUR][1000 genomes]
rs12811684	0.86[EUR][1000 genomes]
rs12811777	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12812650	0.87[EUR][1000 genomes]
rs12812727	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12813309	0.86[EUR][1000 genomes]
rs12813368	0.86[EUR][1000 genomes]
rs12813728	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12817386	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12818033	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12819296	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12820074	0.82[EUR][1000 genomes]
rs12820966	0.86[EUR][1000 genomes]
rs12821444	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12822509	0.87[EUR][1000 genomes]
rs12824225	0.87[EUR][1000 genomes]
rs12824840	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12824958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12826153	0.81[EUR][1000 genomes]
rs12827861	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12828349	0.87[EUR][1000 genomes]
rs12828536	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12830048	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12830073	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12830422	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12831269	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12831597	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs15897	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[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];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17296192	0.81[CEU][hapmap]
rs224565	0.82[ASN][1000 genomes]
rs224589	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs224591	0.90[ASN][1000 genomes]
rs2285228	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]
rs2285230	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]
rs2301529	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];0.94[ASN][1000 genomes]
rs2516742	0.89[ASN][1000 genomes]
rs2630364	0.81[ASN][1000 genomes]
rs319932	0.87[ASN][1000 genomes]
rs34514224	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34735738	0.87[EUR][1000 genomes]
rs35037088	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35262273	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35379220	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35656976	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35999440	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs407135	0.90[ASN][1000 genomes]
rs422637	0.89[ASN][1000 genomes]
rs422982	1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs440595	0.86[ASN][1000 genomes]
rs4444142	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4471501	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs454520	0.90[ASN][1000 genomes]
rs4768964	0.85[EUR][1000 genomes]
rs4768967	0.85[EUR][1000 genomes]
rs6580784	0.86[EUR][1000 genomes]
rs6580793	0.81[CEU][hapmap]
rs67025973	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67133203	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67259551	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67260912	0.86[EUR][1000 genomes]
rs706801	0.85[ASN][1000 genomes]
rs706802	0.85[ASN][1000 genomes]
rs7135059	0.88[EUR][1000 genomes]
rs71445768	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71445772	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7305638	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7306293	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73090655	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7488909	0.87[ASN][1000 genomes]
rs7954140	0.85[EUR][1000 genomes]
rs7959075	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7959082	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7964570	0.86[EUR][1000 genomes]
rs7965566	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7972406	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7975147	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976777	0.86[EUR][1000 genomes]
rs7978723	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs7980874	0.88[EUR][1000 genomes]
rs829022	0.85[ASN][1000 genomes]
rs853235	0.82[JPT][hapmap]
rs970098	0.86[EUR][1000 genomes]
rs970099	0.86[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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51399200-51418000	Weak transcription	Gastric	stomach
2	chr12:51399800-51414600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:51399800-51415600	Weak transcription	Right Ventricle	heart
4	chr12:51401400-51417800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:51402000-51418000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:51402000-51418000	Weak transcription	Fetal Stomach	stomach
7	chr12:51402400-51415600	Weak transcription	GM12878-XiMat	blood
8	chr12:51402400-51417200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:51402400-51417600	Weak transcription	Left Ventricle	heart
10	chr12:51402400-51418000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:51403000-51418000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:51403400-51415600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:51403400-51417600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:51403600-51414400	Weak transcription	Hela-S3	cervix
15	chr12:51403600-51414600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:51403600-51417400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:51403600-51417600	Weak transcription	HSMM	muscle
18	chr12:51403800-51417000	Weak transcription	Brain Germinal Matrix	brain
19	chr12:51404200-51414600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:51404800-51417800	Weak transcription	Fetal Brain Female	brain
21	chr12:51405800-51415000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:51406000-51414600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:51406000-51415200	Weak transcription	Right Atrium	heart
24	chr12:51406400-51417200	Weak transcription	Fetal Brain Male	brain
25	chr12:51406400-51417400	Weak transcription	Osteobl	bone
26	chr12:51406400-51417600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:51406800-51415000	Weak transcription	Fetal Heart	heart
28	chr12:51407000-51414800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:51407000-51417400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:51407000-51417600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:51407000-51418000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:51407200-51415800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:51407400-51415200	Weak transcription	Placenta	Placenta
34	chr12:51407600-51415200	Weak transcription	Lung	lung
35	chr12:51407600-51415600	Weak transcription	Small Intestine	intestine
36	chr12:51407600-51417200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:51407600-51417600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:51408000-51414400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:51408600-51417000	Weak transcription	Fetal Muscle Leg	muscle
40	chr12:51408600-51417000	Weak transcription	Psoas Muscle	Psoas
41	chr12:51409000-51417400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:51409800-51416400	Weak transcription	Fetal Kidney	kidney
43	chr12:51410400-51415200	Weak transcription	Pancreas	Pancrea
44	chr12:51410800-51418400	Weak transcription	Primary B cells from cord blood	blood
45	chr12:51411800-51415600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:51411800-51416400	Weak transcription	A549	lung
47	chr12:51412000-51414400	Weak transcription	Fetal Intestine Large	intestine
48	chr12:51412200-51417800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr12:51412400-51414400	Weak transcription	Liver	Liver
50	chr12:51412400-51414800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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