Variant report

Variant	rs11678388
Chromosome Location	chr2:190076836-190076837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190075089..190077923-chr2:190078136..190079757,2	MCF-7	breast:
2	chr2:190070733..190073689-chr2:190074738..190076938,2	MCF-7	breast:
3	chr2:190076562..190079002-chr2:190079096..190081087,2	K562	blood:
4	chr2:190076426..190078062-chr2:190079096..190081781,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10497699	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10931402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10931406	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10931410	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11675295	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11676812	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11677073	0.90[ASN][1000 genomes]
rs11681937	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11684417	0.90[ASN][1000 genomes]
rs11684869	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11687908	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11690774	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11693810	0.90[ASN][1000 genomes]
rs11695837	0.90[EUR][1000 genomes]
rs12472232	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1515873	0.85[ASN][1000 genomes]
rs1515875	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1519185	0.90[ASN][1000 genomes]
rs1520862	0.90[ASN][1000 genomes]
rs17198773	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17198780	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17198787	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17198815	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17198829	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17270952	0.88[ASN][1000 genomes]
rs17270966	0.82[ASN][1000 genomes]
rs17270973	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17270987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17271008	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17271015	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1996576	0.90[ASN][1000 genomes]
rs2683013	0.90[ASN][1000 genomes]
rs2683014	0.90[ASN][1000 genomes]
rs28413975	0.84[ASN][1000 genomes]
rs35598715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55851872	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56252219	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56381644	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59031473	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61130121	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61528955	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182060	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182061	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182066	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182068	0.90[ASN][1000 genomes]
rs62182069	0.90[ASN][1000 genomes]
rs62182415	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182420	0.82[ASN][1000 genomes]
rs62182421	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182454	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62182457	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62182458	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62182459	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62183794	0.90[ASN][1000 genomes]
rs62183841	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62183844	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62183845	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62183846	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62183847	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62183848	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72908368	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72908382	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72910347	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72910360	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72912280	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72912286	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72914135	0.84[ASN][1000 genomes]
rs72914141	0.90[ASN][1000 genomes]
rs7564429	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7586853	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.97[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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190073000-190077000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:190073000-190077000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:190073200-190077000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:190073400-190077000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:190074000-190079400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:190075600-190077000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:190075600-190079200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:190075800-190077000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:190075800-190077000	Enhancers	Fetal Stomach	stomach
10	chr2:190075800-190077000	Enhancers	Hela-S3	cervix
11	chr2:190075800-190077000	Enhancers	HSMM	muscle
12	chr2:190075800-190077200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:190075800-190078000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:190075800-190079800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:190076000-190077000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:190076000-190077000	Enhancers	Fetal Lung	lung
17	chr2:190076000-190077000	Enhancers	NHLF	lung
18	chr2:190076000-190077000	Enhancers	Osteobl	bone
19	chr2:190076000-190077200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:190076000-190077200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:190076000-190079400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:190076000-190087200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:190076000-190096800	Weak transcription	Aorta	Aorta
24	chr2:190076200-190077000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:190076200-190077000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr2:190076200-190077000	Enhancers	HSMMtube	muscle
27	chr2:190076200-190077800	Enhancers	K562	blood
28	chr2:190076400-190077000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:190076400-190077000	Enhancers	Colon Smooth Muscle	Colon
30	chr2:190076400-190077000	Flanking Active TSS	A549	lung
31	chr2:190076400-190077000	Flanking Active TSS	NHDF-Ad	bronchial
32	chr2:190076600-190077000	Enhancers	H9 Cell Line	embryonic stem cell
33	chr2:190076600-190077000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:190076600-190077000	Enhancers	Fetal Muscle Leg	muscle
35	chr2:190076600-190077000	Enhancers	Placenta Amnion	Placenta Amnion
36	chr2:190076800-190077000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:190076800-190077000	Enhancers	Rectal Smooth Muscle	rectum
38	chr2:190076800-190078000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr2:190076800-190078000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:190076800-190081600	Weak transcription	NH-A	brain
41	chr2:190076800-190081800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr2:190076800-190082200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:190076800-190082200	Weak transcription	HUVEC	blood vessel

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