Variant report

Variant	rs9964950
Chromosome Location	chr18:13025050-13025051
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	chr18:13011595..13014451-chr18:13022338..13025597,3	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10164063	1.00[EUR][1000 genomes]
rs11080631	1.00[EUR][1000 genomes]
rs1613375	1.00[EUR][1000 genomes]
rs1628961	1.00[EUR][1000 genomes]
rs16939913	1.00[EUR][1000 genomes]
rs1786993	1.00[EUR][1000 genomes]
rs1893324	1.00[EUR][1000 genomes]
rs1893325	1.00[EUR][1000 genomes]
rs1945136	1.00[EUR][1000 genomes]
rs2027693	1.00[EUR][1000 genomes]
rs2027694	1.00[EUR][1000 genomes]
rs2155864	1.00[EUR][1000 genomes]
rs28579212	1.00[EUR][1000 genomes]
rs478502	1.00[EUR][1000 genomes]
rs4796970	1.00[EUR][1000 genomes]
rs482642	1.00[EUR][1000 genomes]
rs483647	1.00[EUR][1000 genomes]
rs486976	1.00[EUR][1000 genomes]
rs506877	1.00[EUR][1000 genomes]
rs533010	1.00[EUR][1000 genomes]
rs543201	1.00[EUR][1000 genomes]
rs547479	1.00[EUR][1000 genomes]
rs569831	1.00[EUR][1000 genomes]
rs575250	1.00[EUR][1000 genomes]
rs57580816	1.00[EUR][1000 genomes]
rs58839955	1.00[EUR][1000 genomes]
rs7229440	1.00[EUR][1000 genomes]
rs7236539	1.00[EUR][1000 genomes]
rs7238800	1.00[EUR][1000 genomes]
rs7240157	1.00[EUR][1000 genomes]
rs73407719	1.00[EUR][1000 genomes]
rs73407722	1.00[EUR][1000 genomes]
rs73407750	1.00[EUR][1000 genomes]
rs73407763	1.00[EUR][1000 genomes]
rs73407884	1.00[EUR][1000 genomes]
rs73416976	1.00[EUR][1000 genomes]
rs73419110	1.00[EUR][1000 genomes]
rs73419545	1.00[EUR][1000 genomes]
rs8083404	1.00[EUR][1000 genomes]
rs8099254	1.00[EUR][1000 genomes]
rs908577	1.00[EUR][1000 genomes]
rs9945456	1.00[EUR][1000 genomes]
rs9946422	1.00[EUR][1000 genomes]
rs9953795	1.00[EUR][1000 genomes]
rs9958518	1.00[EUR][1000 genomes]
rs9961157	1.00[AFR][1000 genomes]
rs9965936	1.00[EUR][1000 genomes]
rs9966740	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh 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	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv1062413	chr18:12988947-13039941	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv543657	chr18:12988947-13039941	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12992600-13031200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:12995200-13042000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:12998400-13041600	Strong transcription	Dnd41	blood
4	chr18:12999200-13039000	Strong transcription	Fetal Thymus	thymus
5	chr18:13000400-13034000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr18:13004800-13031800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr18:13005000-13039200	Strong transcription	Primary B cells from peripheral blood	blood
8	chr18:13005400-13033400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr18:13006400-13034400	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr18:13007200-13044000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr18:13008000-13046000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr18:13008400-13047200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr18:13011400-13034000	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr18:13011400-13038800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr18:13011800-13033800	Strong transcription	Primary B cells from cord blood	blood
16	chr18:13013600-13025600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr18:13013800-13031800	Weak transcription	Pancreas	Pancrea
18	chr18:13013800-13052000	Weak transcription	Right Ventricle	heart
19	chr18:13013800-13053200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:13014200-13029800	Weak transcription	Colonic Mucosa	Colon
21	chr18:13014200-13047200	Weak transcription	Psoas Muscle	Psoas
22	chr18:13015400-13036400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr18:13015600-13048800	Weak transcription	Small Intestine	intestine
24	chr18:13016400-13027000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr18:13016400-13036200	Weak transcription	Gastric	stomach
26	chr18:13016600-13031800	Weak transcription	Spleen	Spleen
27	chr18:13016800-13027000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr18:13016800-13031600	Weak transcription	HSMMtube	muscle
29	chr18:13016800-13053200	Weak transcription	Esophagus	oesophagus
30	chr18:13017000-13026600	Weak transcription	NHLF	lung
31	chr18:13017000-13031000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr18:13017200-13056000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr18:13017400-13029000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr18:13017600-13042200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr18:13017800-13026000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr18:13018000-13026600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr18:13018200-13026400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr18:13018200-13026600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr18:13018400-13030800	Weak transcription	Lung	lung
40	chr18:13018400-13038400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr18:13018600-13117400	Weak transcription	Stomach Mucosa	stomach
42	chr18:13019000-13026200	Weak transcription	Brain Germinal Matrix	brain
43	chr18:13019000-13030000	Weak transcription	Colon Smooth Muscle	Colon
44	chr18:13019200-13025400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr18:13019600-13025800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr18:13019600-13026600	Weak transcription	Osteobl	bone
47	chr18:13019800-13025600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr18:13020400-13025200	Weak transcription	NHDF-Ad	bronchial
49	chr18:13020400-13029600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr18:13020400-13031400	Weak transcription	Aorta	Aorta

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