Variant report

Variant	rs9444349
Chromosome Location	chr6:86212026-86212027
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	chr6:86205630..86207293-chr6:86209333..86212533,3	K562	blood:
2	chr6:86211598..86213102-chr6:86215561..86217190,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1059306	0.87[CEU][hapmap]
rs10944133	0.84[ASN][1000 genomes]
rs1173415	0.81[ASN][1000 genomes]
rs12199873	0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12205013	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1590281	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1885607	0.88[AFR][1000 genomes]
rs2065114	0.86[CEU][hapmap];0.91[CHB][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2208725	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2229523	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2475790	0.87[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2475791	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2758840	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2758844	0.85[ASN][1000 genomes]
rs2758846	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2758847	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2783171	0.86[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2842601	0.86[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs2842602	0.85[ASN][1000 genomes]
rs2842604	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2842607	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs2842608	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2842609	0.87[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2842612	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2842613	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs3812133	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4235826	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4235827	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4282381	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4304137	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4351223	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4373337	0.82[CEU][hapmap]
rs4419647	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4441928	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4501401	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4562107	0.81[ASN][1000 genomes]
rs4579322	0.85[CHB][hapmap]
rs4593336	0.82[CEU][hapmap]
rs4706240	0.92[ASN][1000 genomes]
rs4707207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4707209	0.93[ASN][1000 genomes]
rs6454468	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6454469	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6454471	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6922	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6926049	0.92[ASN][1000 genomes]
rs6931295	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7452605	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7739563	0.82[EUR][1000 genomes]
rs7742201	0.80[AFR][1000 genomes]
rs7746065	0.91[CEU][hapmap];0.91[CHB][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7765636	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7768065	0.93[ASN][1000 genomes]
rs7770359	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9294337	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9344532	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9351065	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs9353318	0.81[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9362230	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9362233	0.92[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs9450272	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9450282	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs9450287	0.86[EUR][1000 genomes]
rs9450290	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017418	chr6:85344786-86259540	Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv538347	chr6:85344786-86259540	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	esv3326486	chr6:86020165-86292456	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv3435075	chr6:86052235-86271910	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv463937	chr6:86114766-86264374	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv604092	chr6:86114766-86264374	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv520112	chr6:86144875-86247759	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv886333	chr6:86199243-86289415	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv463939	chr6:86205323-86279737	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv470839	chr6:86205323-86279737	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv604093	chr6:86205323-86279737	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs9444349	SNHG5	cis	Whole Blood	GTEx
rs9444349	SNHG5	cis	Skin Sun Exposed Lower leg	GTEx
rs9444349	SNHG5	cis	Adipose Subcutaneous	GTEx
rs9444349	C6orf160	cis	normal skin	skin_eQTL
rs9444349	C6orf160	cis	lesional skin	skin_eQTL
rs9444349	SNHG5	Cis_1M	lymphoblastoid	RTeQTL
rs9444349	SNHG5	cis	Esophagus Muscularis	GTEx
rs9444349	SNHG5	cis	Thyroid	GTEx
rs9444349	SNHG5	cis	Esophagus Mucosa	GTEx
rs9444349	SNHG5	cis	Artery Tibial	GTEx
rs9444349	SNHG5	cis	Nerve Tibial	GTEx
rs9444349	NT5E	Cis_1M	lymphoblastoid	RTeQTL
rs9444349	C6orf160	cis	uninvolved skin	skin_eQTL
rs9444349	SNHG5	cis	Muscle Skeletal	GTEx
rs9444349	SNHG5	cis	multi-tissue	Pritchard
rs9444349	SNHG5	cis	lung	GTEx

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86176800-86242600	Weak transcription	Gastric	stomach
2	chr6:86192800-86221400	Weak transcription	Brain Substantia Nigra	brain
3	chr6:86193000-86221200	Weak transcription	A549	lung
4	chr6:86193200-86212200	Weak transcription	Brain Anterior Caudate	brain
5	chr6:86193400-86219800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr6:86195000-86219800	Weak transcription	Brain Angular Gyrus	brain
7	chr6:86196800-86221600	Weak transcription	Spleen	Spleen
8	chr6:86199600-86219400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:86200000-86219200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:86200200-86219400	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:86200600-86220400	Weak transcription	Psoas Muscle	Psoas
12	chr6:86200600-86221800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:86200800-86212800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr6:86201000-86216600	Weak transcription	Left Ventricle	heart
15	chr6:86201600-86218800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr6:86202800-86218800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr6:86203400-86219800	Weak transcription	NHLF	lung
18	chr6:86205000-86212400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:86205200-86217600	Weak transcription	HSMMtube	muscle
20	chr6:86205200-86219600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr6:86206000-86212200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:86206000-86215200	Weak transcription	NHDF-Ad	bronchial
23	chr6:86206400-86212200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:86207000-86221600	Weak transcription	Lung	lung
25	chr6:86207200-86217600	Weak transcription	Fetal Intestine Large	intestine
26	chr6:86207200-86219400	Weak transcription	Osteobl	bone
27	chr6:86207200-86219800	Weak transcription	Fetal Muscle Leg	muscle
28	chr6:86207200-86221200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:86207200-86221600	Weak transcription	Brain Germinal Matrix	brain
30	chr6:86207200-86238400	Weak transcription	Esophagus	oesophagus
31	chr6:86207400-86217600	Weak transcription	Placenta	Placenta
32	chr6:86207400-86219200	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:86207400-86219400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:86207400-86219400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:86207400-86219600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:86207400-86221400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:86207400-86221600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:86207400-86221600	Weak transcription	Aorta	Aorta
39	chr6:86207400-86221600	Weak transcription	Fetal Stomach	stomach
40	chr6:86207600-86219400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr6:86207600-86219400	Weak transcription	Fetal Brain Male	brain
42	chr6:86208400-86212800	Weak transcription	Primary B cells from cord blood	blood
43	chr6:86208400-86219400	Weak transcription	Fetal Brain Female	brain
44	chr6:86208600-86221000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr6:86208800-86219400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr6:86208800-86284600	Weak transcription	Small Intestine	intestine
47	chr6:86208800-86289200	Weak transcription	Pancreas	Pancrea
48	chr6:86209000-86215000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:86209000-86216000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr6:86209000-86217600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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