Variant report

Variant	rs13000048
Chromosome Location	chr2:178337089-178337090
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178336406..178340265-chr2:178346477..178351406,5	K562	blood:
2	chr2:178336406..178338882-chr2:178346745..178351095,3	K562	blood:
3	chr2:178335691..178337649-chr2:178412164..178414939,2	K562	blood:

Extended variants
information (count: 127 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs10165785	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10170546	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10170667	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10194648	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10201153	0.85[JPT][hapmap]
rs10497501	0.90[CEU][hapmap];0.82[CHB][hapmap]
rs10497502	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs10497503	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10497508	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs10803909	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10930792	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10930798	0.81[EUR][1000 genomes]
rs11684320	0.81[EUR][1000 genomes]
rs11688684	0.86[JPT][hapmap]
rs11893448	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12104588	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12463893	0.81[EUR][1000 genomes]
rs12469386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471741	0.81[EUR][1000 genomes]
rs12474344	0.81[JPT][hapmap]
rs12612857	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs12615367	0.85[JPT][hapmap]
rs12616093	0.86[JPT][hapmap]
rs12616443	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12618139	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12622298	0.81[EUR][1000 genomes]
rs12693120	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12990594	0.85[JPT][hapmap]
rs12990729	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12996447	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13004955	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13013752	0.81[EUR][1000 genomes]
rs13020788	0.80[CEU][hapmap]
rs13022567	0.82[JPT][hapmap]
rs13027959	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1348848	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1348849	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1348850	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1374437	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1405713	0.90[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap]
rs1453370	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1453373	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1548067	0.89[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs16865203	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs16865216	0.82[ASN][1000 genomes]
rs16865229	0.82[ASN][1000 genomes]
rs16865291	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs16865328	0.86[JPT][hapmap]
rs16865331	0.86[JPT][hapmap]
rs1901825	1.00[JPT][hapmap]
rs1901826	0.95[JPT][hapmap]
rs1901829	0.81[ASN][1000 genomes]
rs1975543	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1979058	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2034678	0.95[JPT][hapmap]
rs2060929	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2084233	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2121430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2166554	0.80[EUR][1000 genomes]
rs2166558	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2197611	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2364853	0.84[ASN][1000 genomes]
rs2364854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3213945	0.85[JPT][hapmap]
rs3769995	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs3769996	0.81[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs3769997	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs3770002	0.82[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs3813259	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3902850	1.00[CEU][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3927978	0.82[EUR][1000 genomes]
rs4243388	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4243390	0.81[EUR][1000 genomes]
rs4341974	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4528793	0.90[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap]
rs4893821	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs4893822	1.00[CEU][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs4893823	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4893824	0.93[ASN][1000 genomes]
rs4893825	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4893931	0.80[ASN][1000 genomes]
rs4893935	0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs4893936	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4893938	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4893941	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4893944	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4893945	0.92[ASN][1000 genomes]
rs4893946	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4893950	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4893951	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4893954	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4893957	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4893959	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4893961	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4893962	0.90[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4893965	0.89[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs57273542	0.82[ASN][1000 genomes]
rs57295810	0.86[ASN][1000 genomes]
rs57527255	0.85[ASN][1000 genomes]
rs57541536	0.85[ASN][1000 genomes]
rs57733896	0.85[ASN][1000 genomes]
rs57948641	0.85[ASN][1000 genomes]
rs58297927	0.85[ASN][1000 genomes]
rs59111239	0.82[ASN][1000 genomes]
rs59421055	0.83[ASN][1000 genomes]
rs59504156	0.83[ASN][1000 genomes]
rs60642012	0.83[ASN][1000 genomes]
rs60670838	0.82[ASN][1000 genomes]
rs6433670	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6433673	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6710575	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6742951	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6761593	0.83[EUR][1000 genomes]
rs7565022	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7573763	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7586051	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7587604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7591807	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7604673	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7606235	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7607450	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8941	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs952746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9679607	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9789582	0.91[EUR][1000 genomes];0.96[ASN][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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13000048	DKFZp451M2119	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178296400-178397000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:178298800-178357800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:178299400-178357800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:178301600-178339800	Weak transcription	Small Intestine	intestine
5	chr2:178301800-178339200	Weak transcription	Hela-S3	cervix
6	chr2:178304400-178338800	Weak transcription	HMEC	breast
7	chr2:178316200-178345600	Weak transcription	Fetal Brain Male	brain
8	chr2:178330800-178356800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:178331000-178354600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:178331000-178357800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:178331000-178357800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:178331000-178361600	Weak transcription	Brain Substantia Nigra	brain
13	chr2:178331000-178378600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:178331200-178337200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:178331200-178349000	Weak transcription	Left Ventricle	heart
16	chr2:178331200-178355000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:178331200-178358000	Weak transcription	Brain Angular Gyrus	brain
18	chr2:178331200-178378600	Weak transcription	Placenta	Placenta
19	chr2:178331200-178379200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:178331400-178339000	Weak transcription	Ovary	ovary
21	chr2:178331400-178339000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:178331400-178339400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:178331400-178343600	Weak transcription	Fetal Brain Female	brain
24	chr2:178331400-178348000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:178331400-178388400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr2:178331600-178337200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:178331600-178343200	Weak transcription	Fetal Thymus	thymus
28	chr2:178331600-178345800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:178331600-178351800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:178331600-178357800	Weak transcription	Colonic Mucosa	Colon
31	chr2:178331600-178385600	Weak transcription	Spleen	Spleen
32	chr2:178331800-178339000	Weak transcription	Aorta	Aorta
33	chr2:178331800-178339000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr2:178331800-178339000	Weak transcription	Fetal Stomach	stomach
35	chr2:178331800-178339400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:178331800-178347800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:178331800-178349800	Weak transcription	Esophagus	oesophagus
38	chr2:178331800-178351200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:178331800-178360600	Weak transcription	Lung	lung
40	chr2:178331800-178373800	Weak transcription	Gastric	stomach
41	chr2:178331800-178375800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:178331800-178375800	Weak transcription	Pancreas	Pancrea
43	chr2:178331800-178389400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:178332000-178338800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:178332000-178339000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:178332000-178339000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:178332000-178343600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:178332000-178392800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:178332000-178393800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:178332800-178339000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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