Variant report

Variant	rs1776897
Chromosome Location	chr6:34195011-34195012
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34141348..34144230-chr6:34193591..34195939,2	K562	blood:
2	chr6:34191402..34195529-chr6:34392087..34394261,4	MCF-7	breast:
3	chr6:34193517..34195330-chr6:34392086..34394882,2	K562	blood:
4	chr6:34194332..34197149-chr6:34382426..34385429,3	K562	blood:
5	chr6:34190283..34196950-chr6:34202449..34206308,21	MCF-7	breast:
6	chr6:34193853..34195785-chr6:34492922..34495154,2	K562	blood:
7	chr6:34194289..34196205-chr6:34214333..34216675,2	MCF-7	breast:
8	chr6:34190995..34193306-chr6:34193856..34195513,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000270800	Chromatin interaction
ENSG00000124614	Chromatin interaction
ENSG00000137309	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10807136	1.00[JPT][hapmap]
rs10807137	0.85[ASN][1000 genomes]
rs10807139	0.82[ASN][1000 genomes]
rs10947487	0.82[ASN][1000 genomes]
rs1150777	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1150779	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1150781	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1187115	0.87[ASN][1000 genomes]
rs1187118	0.87[ASN][1000 genomes]
rs11967909	0.83[JPT][hapmap]
rs1211163	0.87[ASN][1000 genomes]
rs12214804	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1573905	0.88[CHB][hapmap];0.95[CHD][hapmap]
rs1592269	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1759627	0.99[ASN][1000 genomes]
rs1759628	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1759645	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1759646	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1776877	0.88[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs1776898	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1776899	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2780226	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2797963	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2797964	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4711385	1.00[JPT][hapmap]
rs4713765	0.86[CHB][hapmap]
rs4713766	1.00[JPT][hapmap]
rs56348792	0.80[ASN][1000 genomes]
rs6457769	0.88[CHB][hapmap]
rs6909732	0.88[CHB][hapmap];0.95[CHD][hapmap]
rs6918981	0.90[CHD][hapmap]
rs7742369	0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7749848	0.84[ASN][1000 genomes]
rs7751671	0.81[ASN][1000 genomes]
rs7774122	0.84[ASN][1000 genomes]
rs9357174	0.87[ASN][1000 genomes]
rs9366846	1.00[CHB][hapmap];0.95[CHD][hapmap]
rs9394200	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[MEX][hapmap]
rs9469745	0.89[AMR][1000 genomes]
rs9469761	0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462900	chr6:33932442-34195011	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription 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 miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv602843	chr6:33932442-34195011	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv432881	chr6:34026522-34213822	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv462902	chr6:34056726-34195011	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv602862	chr6:34056726-34195011	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv885781	chr6:34110257-34247661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv462903	chr6:34110257-34263743	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv602863	chr6:34110257-34263743	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
9	esv1816380	chr6:34110880-34206718	Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
10	nsv885782	chr6:34187206-34209516	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
11	nsv885783	chr6:34187206-34209844	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
12	nsv885784	chr6:34187206-34246714	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

Variant related diseases (count:4)

Disease	PMID	Source
Height	25429064	GWAS catalog
Height	18391951	GWAS catalog
Height	19343178	GWAS catalog
Height	20397748	GWAS catalog

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34192400-34195200	Weak transcription	Fetal Brain Male	brain
2	chr6:34192400-34199800	Weak transcription	Gastric	stomach
3	chr6:34192400-34200600	Weak transcription	HSMM	muscle
4	chr6:34192400-34202600	Weak transcription	Right Atrium	heart
5	chr6:34192400-34203400	Weak transcription	Pancreas	Pancrea
6	chr6:34192400-34203600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:34192600-34195600	Weak transcription	Placenta	Placenta
8	chr6:34192600-34195800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:34192600-34196200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:34192600-34196600	Weak transcription	Brain Anterior Caudate	brain
11	chr6:34192600-34196800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:34192600-34197000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:34192600-34197000	Weak transcription	Osteobl	bone
14	chr6:34192600-34203600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:34192600-34204400	Weak transcription	HSMMtube	muscle
16	chr6:34192800-34195200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr6:34192800-34195200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr6:34192800-34195200	Weak transcription	Dnd41	blood
19	chr6:34192800-34195600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:34192800-34195600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr6:34192800-34195600	Weak transcription	NH-A	brain
22	chr6:34192800-34196200	Enhancers	K562	blood
23	chr6:34192800-34196800	Weak transcription	NHDF-Ad	bronchial
24	chr6:34192800-34197000	Weak transcription	NHLF	lung
25	chr6:34192800-34197800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:34192800-34203800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:34193000-34195600	Weak transcription	HUVEC	blood vessel
28	chr6:34193200-34196200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:34193400-34195800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:34193400-34195800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:34193400-34195800	Enhancers	Esophagus	oesophagus
32	chr6:34193400-34196000	Enhancers	Thymus	Thymus
33	chr6:34193400-34196200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr6:34193400-34196200	Enhancers	NHEK	skin
35	chr6:34193400-34197400	Enhancers	Fetal Thymus	thymus
36	chr6:34193600-34195800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:34193600-34195800	Enhancers	H9 Cell Line	embryonic stem cell
38	chr6:34193600-34196000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr6:34193600-34196200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr6:34193800-34195600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:34193800-34195600	Weak transcription	Liver	Liver
42	chr6:34193800-34196000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:34193800-34197000	Enhancers	Primary B cells from peripheral blood	blood
44	chr6:34194000-34195800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:34194200-34195400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr6:34194200-34196000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:34194200-34196200	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr6:34194400-34195800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:34194400-34195800	Enhancers	Spleen	Spleen
50	chr6:34194400-34196000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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