Variant report

Variant	rs4959950
Chromosome Location	chr6:4399854-4399855
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4398942..4400523-chr6:4402964..4405624,2	K562	blood:

Extended variants
information (count: 146 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10447479	0.81[EUR][1000 genomes]
rs10458172	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs10458173	0.87[CEU][hapmap]
rs10458174	0.89[EUR][1000 genomes]
rs10900958	0.80[EUR][1000 genomes]
rs10900959	0.80[EUR][1000 genomes]
rs10900960	0.80[EUR][1000 genomes]
rs10900961	0.80[EUR][1000 genomes]
rs11242924	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11242925	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11242927	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11242928	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11242929	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11242930	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11242933	0.80[EUR][1000 genomes]
rs11242934	0.80[EUR][1000 genomes]
rs11242935	0.80[EUR][1000 genomes]
rs11242936	0.80[EUR][1000 genomes]
rs11242937	0.81[EUR][1000 genomes]
rs11242939	0.81[EUR][1000 genomes]
rs11242943	0.85[EUR][1000 genomes]
rs11242944	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs11242945	0.86[CEU][hapmap]
rs11242946	0.86[EUR][1000 genomes]
rs11242947	0.86[EUR][1000 genomes]
rs11755069	0.80[EUR][1000 genomes]
rs12190411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12195432	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12200144	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs12524545	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12529480	0.86[EUR][1000 genomes]
rs1265193	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12660869	0.84[EUR][1000 genomes]
rs13213475	0.92[EUR][1000 genomes]
rs1330783	0.89[EUR][1000 genomes]
rs1330784	0.89[EUR][1000 genomes]
rs1330789	0.86[EUR][1000 genomes]
rs1330791	0.83[EUR][1000 genomes]
rs1411656	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1581972	0.89[EUR][1000 genomes]
rs1590939	0.81[EUR][1000 genomes]
rs17567855	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2026183	0.88[EUR][1000 genomes]
rs2026184	0.88[EUR][1000 genomes]
rs2026185	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs2065218	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2065219	0.84[ASN][1000 genomes]
rs2150234	0.86[EUR][1000 genomes]
rs2183497	0.81[EUR][1000 genomes]
rs2326490	0.88[EUR][1000 genomes]
rs386894	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4481463	0.96[EUR][1000 genomes]
rs4513847	0.81[EUR][1000 genomes]
rs4534025	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4621669	0.81[EUR][1000 genomes]
rs492603	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959284	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4959286	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4959287	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4959952	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4959953	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs501141	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs553844	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55830017	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56314957	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58613216	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59075559	0.81[EUR][1000 genomes]
rs61711492	0.88[ASN][1000 genomes]
rs6597060	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6597066	0.85[EUR][1000 genomes]
rs6597067	0.86[EUR][1000 genomes]
rs6597068	0.86[EUR][1000 genomes]
rs6597069	0.83[EUR][1000 genomes]
rs66773553	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6902044	0.81[EUR][1000 genomes]
rs6904462	0.85[EUR][1000 genomes]
rs6908618	0.85[EUR][1000 genomes]
rs6908628	0.85[EUR][1000 genomes]
rs6911222	0.95[EUR][1000 genomes]
rs6912116	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6912489	0.95[EUR][1000 genomes]
rs6912741	0.92[EUR][1000 genomes]
rs6917196	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6920549	0.81[EUR][1000 genomes]
rs6921285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6923978	0.85[EUR][1000 genomes]
rs6926926	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6927710	0.92[EUR][1000 genomes]
rs6929358	0.90[EUR][1000 genomes]
rs6930889	0.87[EUR][1000 genomes]
rs6931444	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6934676	0.95[EUR][1000 genomes]
rs7750156	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs7752768	0.83[EUR][1000 genomes]
rs7756945	0.86[EUR][1000 genomes]
rs7760765	0.88[EUR][1000 genomes]
rs7765880	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7766314	0.96[EUR][1000 genomes]
rs885184	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs914047	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9328251	0.88[EUR][1000 genomes]
rs9378400	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9378872	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9378873	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9378876	0.89[EUR][1000 genomes]
rs9392046	0.86[EUR][1000 genomes]
rs9392047	0.85[EUR][1000 genomes]
rs9392594	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9392597	0.96[EUR][1000 genomes]
rs9504073	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9504076	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9504077	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv600861	chr6:4238488-4469641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv462618	chr6:4238488-4472587	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv600862	chr6:4238488-4472587	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv949364	chr6:4253413-4466981	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv600863	chr6:4255387-4472587	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1027498	chr6:4255640-4471635	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv2763995	chr6:4255640-4474114	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1020205	chr6:4255640-4474114	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv600864	chr6:4255708-4464630	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv516402	chr6:4255708-4472587	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv462619	chr6:4255708-4472587	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv600865	chr6:4255708-4472587	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv462620	chr6:4255708-4481421	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv600866	chr6:4255708-4481421	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv600867	chr6:4255725-4464630	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv462621	chr6:4255725-4472587	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	nsv600868	chr6:4255725-4472587	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	nsv1029501	chr6:4255745-4471635	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv432845	chr6:4255905-4471472	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv1030655	chr6:4257190-4473701	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
21	nsv538108	chr6:4257190-4473701	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
22	nsv1030840	chr6:4257390-4473562	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
23	nsv538109	chr6:4257390-4473562	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
24	nsv1026890	chr6:4259075-4471635	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
25	nsv1030588	chr6:4264933-4455210	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
26	nsv1021257	chr6:4264933-4473384	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
27	nsv538110	chr6:4264933-4473384	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
28	nsv916553	chr6:4269714-4437920	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
29	nsv1016621	chr6:4277411-4473384	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
30	nsv600869	chr6:4294450-4430623	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
31	nsv883413	chr6:4371622-4474114	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
32	nsv1021743	chr6:4382308-4494308	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
33	nsv538111	chr6:4382308-4494308	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
34	nsv600870	chr6:4391872-4429310	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4395400-4400200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:4395400-4400600	Weak transcription	A549	lung
3	chr6:4395400-4402000	Weak transcription	Placenta	Placenta
4	chr6:4395400-4402600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:4395600-4405800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:4396000-4402400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:4397200-4400400	Enhancers	HSMMtube	muscle
8	chr6:4397200-4406800	Enhancers	Fetal Muscle Leg	muscle
9	chr6:4397600-4400600	Enhancers	Right Atrium	heart
10	chr6:4397600-4401200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:4397600-4401200	Enhancers	Fetal Muscle Trunk	muscle
12	chr6:4398000-4402400	Weak transcription	Brain Anterior Caudate	brain
13	chr6:4398000-4402800	Weak transcription	Brain Hippocampus Middle	brain
14	chr6:4398200-4402000	Weak transcription	Spleen	Spleen
15	chr6:4398200-4402200	Weak transcription	Adipose Nuclei	Adipose
16	chr6:4398400-4401600	Weak transcription	Fetal Lung	lung
17	chr6:4398600-4402800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:4398800-4402000	Weak transcription	Right Ventricle	heart
19	chr6:4398800-4402200	Weak transcription	Psoas Muscle	Psoas
20	chr6:4399200-4402000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr6:4399400-4402600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:4399600-4400000	Weak transcription	Left Ventricle	heart
23	chr6:4399600-4400400	Bivalent Enhancer	K562	blood
24	chr6:4399600-4400800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:4399600-4401600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr6:4399800-4402000	Weak transcription	HSMM	muscle

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