Variant report

Variant	rs11679648
Chromosome Location	chr2:99272802-99272803
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1028144	0.84[ASW][hapmap]
rs17448190	1.00[CHB][hapmap]
rs17448211	1.00[CHB][hapmap]
rs17755756	0.82[ASW][hapmap]
rs3754870	0.84[ASW][hapmap]
rs3769702	1.00[CHB][hapmap]
rs56386350	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734569	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv582516	chr2:99254031-99304794	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11679648	ITPRIPL1	cis	cerebellum	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99231200-99286200	Weak transcription	Stomach Mucosa	stomach
2	chr2:99234600-99310600	Weak transcription	Small Intestine	intestine
3	chr2:99234800-99296400	Weak transcription	Esophagus	oesophagus
4	chr2:99235400-99273600	Weak transcription	Fetal Kidney	kidney
5	chr2:99249800-99318000	Weak transcription	Psoas Muscle	Psoas
6	chr2:99251400-99277800	Weak transcription	Spleen	Spleen
7	chr2:99251400-99295600	Weak transcription	Fetal Stomach	stomach
8	chr2:99251600-99275400	Weak transcription	Gastric	stomach
9	chr2:99251600-99302000	Weak transcription	Brain Angular Gyrus	brain
10	chr2:99251600-99306600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:99251800-99275600	Weak transcription	Aorta	Aorta
12	chr2:99253200-99277400	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:99253200-99293000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:99255600-99306800	Weak transcription	Colonic Mucosa	Colon
15	chr2:99256400-99296000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:99259000-99281800	Weak transcription	Left Ventricle	heart
17	chr2:99260000-99288000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:99260600-99290400	Weak transcription	Liver	Liver
19	chr2:99260600-99290800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:99264600-99299000	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:99265200-99275400	Weak transcription	Pancreas	Pancrea
22	chr2:99265200-99291800	Weak transcription	Placenta	Placenta
23	chr2:99265400-99290800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:99265600-99306600	Weak transcription	Lung	lung
25	chr2:99265800-99275400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr2:99265800-99303800	Weak transcription	Brain Substantia Nigra	brain
27	chr2:99266200-99290400	Weak transcription	Adipose Nuclei	Adipose
28	chr2:99266200-99296200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:99266400-99275400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:99266400-99278000	Weak transcription	HUVEC	blood vessel
31	chr2:99266400-99304200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr2:99267600-99284200	Weak transcription	Fetal Intestine Small	intestine
33	chr2:99268000-99273000	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr2:99268600-99273400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:99269000-99273400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:99269600-99277000	Weak transcription	Brain Anterior Caudate	brain
37	chr2:99270400-99273400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr2:99270600-99274400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr2:99270600-99293800	Strong transcription	HepG2	liver
40	chr2:99271000-99273000	Enhancers	Primary B cells from cord blood	blood
41	chr2:99271200-99274000	Genic enhancers	Primary T cells fromperipheralblood	blood
42	chr2:99271400-99274600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:99271400-99275400	Weak transcription	NHEK	skin
44	chr2:99271800-99273000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:99271800-99273400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr2:99271800-99275400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr2:99271800-99288800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:99271800-99289400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr2:99272000-99275400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:99272000-99275400	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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