Variant report

Variant	rs2936032
Chromosome Location	chr1:222751791-222751792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:222750081..222757071-chr1:222758123..222764755,12	K562	blood:
2	chr1:222747881..222749778-chr1:222751683..222754115,2	MCF-7	breast:
3	chr1:222751301..222753492-chr1:222754246..222756592,3	K562	blood:
4	chr1:222742299..222744982-chr1:222750553..222752361,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143498	Chromatin interaction
ENSG00000225265	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10495195	0.82[EUR][1000 genomes]
rs10495196	0.81[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs11487854	0.95[ASN][1000 genomes]
rs17163249	0.80[ASN][1000 genomes]
rs17464254	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs17464836	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs2936033	0.91[JPT][hapmap]
rs3008642	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34093838	0.83[EUR][1000 genomes]
rs34853495	0.83[EUR][1000 genomes]
rs66463396	0.82[EUR][1000 genomes]
rs67870673	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67991082	0.82[EUR][1000 genomes]
rs72738208	0.81[EUR][1000 genomes]
rs74148132	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873203	chr1:222332906-222775000	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh 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	45 gene(s)	inside rSNPs	diseases
4	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv1842070	chr1:222732027-222763235	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2936032	LYPLAL1	cis	parietal	SCAN
rs2936032	HHIPL2	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222720800-222757400	Weak transcription	HSMMtube	muscle
2	chr1:222721200-222762200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:222721800-222762400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:222722000-222755600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:222722000-222755800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:222725600-222762200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:222727600-222762600	Weak transcription	Aorta	Aorta
8	chr1:222727800-222762400	Weak transcription	Thymus	Thymus
9	chr1:222728200-222762200	Weak transcription	Small Intestine	intestine
10	chr1:222729600-222762400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:222729800-222758800	Weak transcription	Pancreas	Pancrea
12	chr1:222730800-222760200	Weak transcription	Brain Substantia Nigra	brain
13	chr1:222730800-222761200	Weak transcription	Fetal Brain Male	brain
14	chr1:222731200-222762400	Weak transcription	Spleen	Spleen
15	chr1:222731600-222756200	Weak transcription	Esophagus	oesophagus
16	chr1:222731600-222758800	Weak transcription	Gastric	stomach
17	chr1:222731600-222762200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:222733600-222762400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:222733800-222761800	Weak transcription	Brain Angular Gyrus	brain
20	chr1:222733800-222762200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:222734000-222762400	Weak transcription	Right Ventricle	heart
22	chr1:222734200-222762400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:222734800-222762200	Weak transcription	Colonic Mucosa	Colon
24	chr1:222738200-222753400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:222739000-222761600	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:222739200-222753200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:222740000-222752600	Strong transcription	Dnd41	blood
28	chr1:222741200-222753200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr1:222742200-222755000	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:222742200-222762400	Weak transcription	Fetal Kidney	kidney
31	chr1:222742600-222755000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr1:222742600-222755800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:222742800-222755600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr1:222742800-222755600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:222742800-222759600	Weak transcription	Colon Smooth Muscle	Colon
36	chr1:222742800-222760200	Weak transcription	Psoas Muscle	Psoas
37	chr1:222742800-222762200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:222743000-222762400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:222743200-222755600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:222743200-222755800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:222743400-222755000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr1:222743400-222759400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:222743400-222761600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr1:222743600-222755600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:222743600-222755800	Weak transcription	NHLF	lung
46	chr1:222743600-222762200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr1:222743800-222755800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:222744400-222755400	Weak transcription	Osteobl	bone
49	chr1:222744600-222752200	Weak transcription	NH-A	brain
50	chr1:222744600-222755000	Weak transcription	HMEC	breast

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