Variant report

Variant	rs2730033
Chromosome Location	chr11:62576955-62576956
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	chr11:62445463..62448140-chr11:62574337..62576991,3	K562	blood:
2	chr11:62574784..62577681-chr14:35871976..35874055,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction
ENSG00000162191	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2730030	1.00[AMR][1000 genomes]
rs2956139	1.00[AMR][1000 genomes]
rs481272	1.00[AMR][1000 genomes]
rs482331	1.00[AMR][1000 genomes]
rs489275	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs507101	1.00[AMR][1000 genomes]
rs560006	1.00[AMR][1000 genomes]
rs560603	1.00[AMR][1000 genomes]
rs561385	1.00[AMR][1000 genomes]
rs561520	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56226867	1.00[AMR][1000 genomes]
rs564587	1.00[AMR][1000 genomes]
rs577071	1.00[AMR][1000 genomes]
rs595108	1.00[AMR][1000 genomes]
rs694678	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487819	1.00[AMR][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	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
5	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases
6	nsv508636	chr11:62547114-62644458	Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1195 gene(s)	inside rSNPs	diseases
7	nsv1051308	chr11:62564713-62673136	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
8	nsv541058	chr11:62564713-62673136	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 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	chr11:62573400-62587000	Weak transcription	Gastric	stomach
2	chr11:62573400-62587200	Weak transcription	Ovary	ovary
3	chr11:62573400-62591400	Weak transcription	Stomach Mucosa	stomach
4	chr11:62573600-62587200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:62573800-62582000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:62573800-62582200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:62573800-62583400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:62573800-62587000	Weak transcription	Brain Anterior Caudate	brain
9	chr11:62573800-62588600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:62573800-62589000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:62573800-62589800	Weak transcription	A549	lung
12	chr11:62574000-62580600	Weak transcription	Primary T cells from cord blood	blood
13	chr11:62574000-62580600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:62574000-62581000	Weak transcription	Adipose Nuclei	Adipose
15	chr11:62574000-62583400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr11:62574000-62583400	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:62574000-62584600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:62574000-62585400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:62574000-62586800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr11:62574000-62586800	Weak transcription	Brain Angular Gyrus	brain
21	chr11:62574000-62587000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:62574000-62587000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:62574000-62588400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr11:62574000-62589200	Weak transcription	Aorta	Aorta
25	chr11:62574000-62590000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:62574000-62590400	Weak transcription	Fetal Kidney	kidney
27	chr11:62574000-62591000	Weak transcription	Fetal Brain Male	brain
28	chr11:62574000-62591400	Weak transcription	Small Intestine	intestine
29	chr11:62574200-62578600	Weak transcription	HepG2	liver
30	chr11:62574200-62580800	Weak transcription	NH-A	brain
31	chr11:62574200-62583200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:62574200-62583200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr11:62574200-62583200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr11:62574200-62583400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:62574200-62583400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr11:62574200-62583400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr11:62574200-62583800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr11:62574200-62583800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:62574200-62585200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:62574200-62586000	Weak transcription	Brain Hippocampus Middle	brain
41	chr11:62574200-62586800	Weak transcription	Brain Substantia Nigra	brain
42	chr11:62574200-62587200	Weak transcription	Right Ventricle	heart
43	chr11:62574200-62587800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr11:62574200-62588800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr11:62574200-62588800	Weak transcription	Colonic Mucosa	Colon
46	chr11:62574200-62590000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:62574400-62580600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr11:62574400-62581000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:62574400-62581000	Weak transcription	Lung	lung
50	chr11:62574400-62581600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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