Variant report

Variant	rs507835
Chromosome Location	chr18:39591117-39591118
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	chr18:39590017..39592684-chr18:39594715..39596812,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs510035	1.00[AFR][1000 genomes]
rs515777	1.00[AFR][1000 genomes]
rs526393	1.00[AFR][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:121 , 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	chr18:39536800-39633600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr18:39548400-39670000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr18:39558200-39594800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr18:39558200-39603800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr18:39564600-39606400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr18:39565000-39597200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr18:39572000-39654400	Weak transcription	Colonic Mucosa	Colon
9	chr18:39573200-39592000	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr18:39573400-39592200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr18:39574800-39603600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr18:39577200-39603400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr18:39577400-39610000	Weak transcription	Fetal Brain Male	brain
14	chr18:39578000-39595400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr18:39578400-39591800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr18:39578400-39663200	Weak transcription	Fetal Heart	heart
17	chr18:39578600-39601800	Weak transcription	A549	lung
18	chr18:39580800-39593600	Weak transcription	Fetal Kidney	kidney
19	chr18:39581000-39601200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr18:39581000-39604000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr18:39581000-39609200	Weak transcription	Fetal Intestine Small	intestine
22	chr18:39581000-39610200	Weak transcription	Aorta	Aorta
23	chr18:39581000-39647400	Weak transcription	Spleen	Spleen
24	chr18:39581000-39666200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr18:39581600-39593600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr18:39582200-39605200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr18:39582800-39597600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr18:39584600-39598600	Weak transcription	Psoas Muscle	Psoas
29	chr18:39584600-39618600	Weak transcription	NHLF	lung
30	chr18:39585000-39600800	Weak transcription	NHDF-Ad	bronchial
31	chr18:39585000-39601000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr18:39585000-39611400	Weak transcription	Gastric	stomach
33	chr18:39585000-39646000	Weak transcription	Pancreas	Pancrea
34	chr18:39585000-39658600	Weak transcription	Small Intestine	intestine
35	chr18:39585200-39593200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr18:39585200-39595000	Weak transcription	Colon Smooth Muscle	Colon
37	chr18:39585200-39610400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr18:39585200-39612000	Weak transcription	NHEK	skin
39	chr18:39585400-39593400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr18:39585400-39593600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr18:39585400-39594400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr18:39585400-39600800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr18:39585400-39627600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr18:39585600-39610200	Weak transcription	Brain Angular Gyrus	brain
45	chr18:39585600-39622400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr18:39586000-39593400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr18:39586000-39593600	Weak transcription	Fetal Lung	lung
48	chr18:39586000-39595200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr18:39586000-39610200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr18:39586200-39593400	Weak transcription	Osteobl	bone

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