Variant report

Variant	rs1413346
Chromosome Location	chr6:11716759-11716760
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:11716333..11720276-chr6:11720959..11723559,3	K562	blood:
2	chr6:11715212..11717961-chr6:11734201..11736485,2	K562	blood:

Variant related genes	Relation type
ENSG00000111863	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11753766	0.82[MEX][hapmap]
rs11754465	0.82[MEX][hapmap]
rs11755870	1.00[CHD][hapmap];0.81[MKK][hapmap]
rs11757650	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13193682	0.91[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13201084	0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13206650	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13209168	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13210680	0.91[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13215825	0.91[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13219857	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs760790	0.91[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758036	chr6:11679753-11822351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759407	chr6:11679753-11822351	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428470	chr6:11686198-11747850	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv462637	chr6:11710554-11733777	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv600990	chr6:11710554-11733777	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11708400-11716800	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr6:11710800-11731000	Weak transcription	Gastric	stomach
3	chr6:11711200-11731000	Weak transcription	Fetal Intestine Small	intestine
4	chr6:11711400-11718400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:11711400-11719200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:11711600-11731800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr6:11712200-11718400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:11712400-11721000	Weak transcription	HSMM	muscle
9	chr6:11712800-11716800	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr6:11713200-11721000	Weak transcription	HMEC	breast
11	chr6:11713400-11723000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:11713400-11724600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:11713600-11718400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:11713600-11718600	Weak transcription	NHLF	lung
15	chr6:11713600-11727600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr6:11713800-11723200	Weak transcription	HSMMtube	muscle
17	chr6:11714000-11719200	Weak transcription	NHEK	skin
18	chr6:11714600-11731600	Weak transcription	Small Intestine	intestine
19	chr6:11715000-11718200	Weak transcription	Colonic Mucosa	Colon
20	chr6:11715200-11716800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr6:11715200-11728000	Weak transcription	Fetal Thymus	thymus
22	chr6:11715600-11717200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr6:11715800-11718400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:11715800-11723000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr6:11716000-11719000	Weak transcription	Primary T cells from cord blood	blood
26	chr6:11716000-11719000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr6:11716000-11719000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:11716400-11716800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:11716400-11716800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr6:11716400-11717000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr6:11716400-11721600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:11716400-11721600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:11716400-11723000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:11716600-11723000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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