Variant report

Variant	rs6457821
Chromosome Location	chr6:35402805-35402806
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:35390023..35392138-chr6:35401114..35403193,2	K562	blood:
2	chr6:35401564..35403389-chr6:35434322..35438039,3	K562	blood:

Variant related genes	Relation type
ENSG00000198755	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11961212	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs11966736	1.00[CEU][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6911817	1.00[CEU][hapmap]
rs6919734	0.89[ASW][hapmap];1.00[CEU][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap]
rs6920146	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs6937510	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs73413742	1.00[EUR][1000 genomes]
rs7750906	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs7761870	1.00[CEU][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs7762809	0.89[ASW][hapmap];1.00[CEU][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7765510	1.00[CEU][hapmap]
rs7771474	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs9658134	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830641	chr6:35282534-35440603	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
2	nsv462907	chr6:35333799-35408959	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv602908	chr6:35333799-35408959	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv602909	chr6:35356640-35423489	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv470812	chr6:35374461-35418118	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv528351	chr6:35377922-35465786	Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
7	nsv885799	chr6:35378778-35442397	Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
8	nsv462908	chr6:35378778-35457396	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
9	nsv602910	chr6:35378778-35457396	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
10	nsv519370	chr6:35378778-35537406	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
11	nsv885800	chr6:35394247-35406153	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Height	20881960	GWAS catalog

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35394600-35403000	Weak transcription	Brain Germinal Matrix	brain
2	chr6:35395200-35404400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:35395800-35403000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:35395800-35403200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:35397200-35403400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:35397400-35403000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:35397400-35403600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:35397600-35403200	Weak transcription	Brain Hippocampus Middle	brain
9	chr6:35398400-35404400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:35400200-35403400	Weak transcription	Small Intestine	intestine
11	chr6:35400400-35403000	Weak transcription	Spleen	Spleen
12	chr6:35400600-35413800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:35401800-35405000	Enhancers	Duodenum Mucosa	Duodenum
14	chr6:35402000-35405800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr6:35402200-35403600	Enhancers	Left Ventricle	heart
16	chr6:35402200-35403600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr6:35402200-35403800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr6:35402200-35404200	Enhancers	Adipose Nuclei	Adipose
19	chr6:35402400-35403000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:35402600-35403000	Weak transcription	Colonic Mucosa	Colon
21	chr6:35402600-35403800	Enhancers	Fetal Heart	heart
22	chr6:35402800-35403000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr6:35402800-35403000	Enhancers	Fetal Stomach	stomach
24	chr6:35402800-35403000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr6:35402800-35403200	Enhancers	Fetal Lung	lung
26	chr6:35402800-35403400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:35402800-35403400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr6:35402800-35403400	Enhancers	Colon Smooth Muscle	Colon
29	chr6:35402800-35403400	Enhancers	Right Atrium	heart
30	chr6:35402800-35403600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:35402800-35403600	Enhancers	Liver	Liver
32	chr6:35402800-35403600	Enhancers	Psoas Muscle	Psoas
33	chr6:35402800-35403600	Enhancers	Hela-S3	cervix
34	chr6:35402800-35403800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:35402800-35404000	Enhancers	Right Ventricle	heart
36	chr6:35402800-35404200	Enhancers	Fetal Intestine Large	intestine
37	chr6:35402800-35404800	Enhancers	Fetal Intestine Small	intestine
38	chr6:35402800-35405200	Enhancers	Placenta	Placenta
39	chr6:35402800-35405800	Bivalent Enhancer	HepG2	liver

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