Variant report

Variant	rs13195399
Chromosome Location	chr6:167821212-167821213
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167818746..167821496-chr6:167831177..167833070,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11755203	0.87[ASN][1000 genomes]
rs12110332	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12110336	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13195414	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13195924	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13198757	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13200549	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13211981	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13215965	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13216342	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34549602	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34932512	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4072270	0.86[EUR][1000 genomes]
rs4072349	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4072350	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4072351	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4077196	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4129276	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4129277	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4364454	0.81[EUR][1000 genomes]
rs4612145	0.81[EUR][1000 genomes]
rs55817451	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55989939	0.81[EUR][1000 genomes]
rs56003791	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56349171	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58286166	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58433276	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66465276	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66531239	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66613411	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66627478	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67066564	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67477741	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67485574	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67822845	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67962591	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71534971	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71554915	0.86[EUR][1000 genomes]
rs71571501	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73031243	0.81[EUR][1000 genomes]
rs73031247	0.81[EUR][1000 genomes]
rs73031277	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73031278	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9346745	0.86[EUR][1000 genomes]
rs9347222	0.86[EUR][1000 genomes]
rs9355645	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9364941	0.86[EUR][1000 genomes]
rs9364943	0.86[EUR][1000 genomes]
rs9364944	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv2758094	chr6:167501204-167845935	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2759492	chr6:167501204-168176733	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1032268	chr6:167569519-167838993	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1026753	chr6:167570212-167832936	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv538545	chr6:167570212-167832936	Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv464141	chr6:167571911-167833557	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv605338	chr6:167571911-167833557	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv470873	chr6:167572542-167844264	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv1019368	chr6:167594182-167838993	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	esv2757201	chr6:167600593-168176733	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv886946	chr6:167644277-168078883	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	esv3322429	chr6:167663221-167823962	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv3351667	chr6:167663224-167822173	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	esv3407080	chr6:167663244-167822175	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	esv3441503	chr6:167663277-167822124	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	esv3494437	chr6:167663289-167822115	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	esv3494438	chr6:167663289-167822115	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv1015142	chr6:167664406-167832936	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv482516	chr6:167672161-167845924	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	esv3693361	chr6:167680649-168179170	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
22	nsv482733	chr6:167696378-167845935	Bivalent Enhancer Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv427771	chr6:167696379-167845513	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv1024651	chr6:167704720-167832936	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	nsv1031591	chr6:167739556-167832936	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
26	nsv886948	chr6:167783664-167832036	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
27	nsv886949	chr6:167783664-167832771	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
28	nsv886950	chr6:167783664-168056843	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
29	nsv886951	chr6:167786021-167832771	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
30	nsv1019214	chr6:167795824-168205855	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
31	nsv886952	chr6:167805521-167832771	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
32	nsv886953	chr6:167811764-167832771	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
33	nsv605349	chr6:167813062-167833557	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
34	nsv886954	chr6:167814784-168056843	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
35	esv3386121	chr6:167820662-167822560	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167820200-167821400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:167820200-167821600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:167820400-167821600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr6:167820400-167822200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr6:167820800-167821400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:167820800-167821400	Flanking Bivalent TSS/Enh	HepG2	liver
7	chr6:167820800-167822200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:167821000-167821400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:167821000-167821400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr6:167821000-167821400	Enhancers	Pancreas	Pancrea
11	chr6:167821000-167821600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr6:167821000-167821600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:167821000-167822200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
14	chr6:167821200-167821400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:167821200-167821400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:167821200-167822000	Enhancers	Fetal Brain Female	brain
17	chr6:167821200-167822200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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