Variant report

Variant	rs667346
Chromosome Location	chr18:39565952-39565953
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	chr18:39565388..39567063-chr18:39572337..39574712,2	K562	blood:
2	chr18:39564167..39566091-chr18:39569330..39571628,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10502776	1.00[CEU][hapmap]
rs1142044	0.87[AMR][1000 genomes]
rs16975441	1.00[CEU][hapmap]
rs16975463	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469471	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs493100	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs525369	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs542870	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55655849	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs575366	0.87[AMR][1000 genomes]
rs583163	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs584022	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs591870	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs593689	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59910026	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs606366	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs608428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs633541	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs635560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs640064	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs640460	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs643772	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs645148	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs647084	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs655693	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs659950	1.00[CEU][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs669235	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs670429	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs674380	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs684091	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7242077	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8084037	1.00[CEU][hapmap]
rs9948650	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9965647	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066869	chr18:38742896-39680723	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv543685	chr18:38742896-39680723	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv431979	chr18:39255558-39696452	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1066029	chr18:39322920-39623625	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv543686	chr18:39322920-39623625	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv909566	chr18:39327962-39688452	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv34153	chr18:39398768-39872265	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv909567	chr18:39470190-39652939	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv909568	chr18:39491873-39768746	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39536000-39621800	Weak transcription	Stomach Mucosa	stomach
2	chr18:39536200-39568600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:39536400-39578200	Weak transcription	A549	lung
4	chr18:39536800-39580000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr18:39536800-39633600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr18:39545600-39583600	Weak transcription	Small Intestine	intestine
7	chr18:39547600-39580600	Weak transcription	Spleen	Spleen
8	chr18:39547800-39569000	Weak transcription	Fetal Brain Female	brain
9	chr18:39548000-39576000	Weak transcription	Fetal Brain Male	brain
10	chr18:39548000-39580200	Weak transcription	Pancreas	Pancrea
11	chr18:39548200-39569200	Weak transcription	Ovary	ovary
12	chr18:39548200-39576600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr18:39548200-39579400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr18:39548200-39580200	Weak transcription	Lung	lung
15	chr18:39548200-39580400	Weak transcription	NHLF	lung
16	chr18:39548400-39573400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr18:39548400-39576000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr18:39548400-39670000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr18:39548600-39573400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr18:39549000-39576800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr18:39549200-39582800	Weak transcription	Psoas Muscle	Psoas
22	chr18:39550400-39577000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr18:39551000-39567600	Weak transcription	Fetal Lung	lung
24	chr18:39551000-39573400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr18:39551000-39576200	Weak transcription	Left Ventricle	heart
26	chr18:39551400-39569000	Weak transcription	Brain Germinal Matrix	brain
27	chr18:39551400-39573400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr18:39551400-39576600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr18:39551600-39568200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr18:39552400-39568000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr18:39552600-39570000	Weak transcription	NHDF-Ad	bronchial
32	chr18:39552800-39567800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr18:39552800-39580200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr18:39553000-39569000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr18:39554200-39574000	Weak transcription	Colon Smooth Muscle	Colon
36	chr18:39554200-39576200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr18:39555000-39573400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr18:39555200-39573800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr18:39555200-39580200	Weak transcription	Aorta	Aorta
40	chr18:39555400-39568000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr18:39555400-39573200	Weak transcription	Brain Anterior Caudate	brain
42	chr18:39555600-39568800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr18:39555600-39572000	Weak transcription	HSMMtube	muscle
44	chr18:39555600-39573800	Weak transcription	Hela-S3	cervix
45	chr18:39556200-39569000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr18:39557000-39568000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr18:39557200-39572000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr18:39557200-39573400	Weak transcription	Fetal Kidney	kidney
49	chr18:39557400-39575400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr18:39557800-39573200	Weak transcription	Fetal Thymus	thymus

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