Variant report

Variant	rs502969
Chromosome Location	chr11:18007848-18007849
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18007007..18009095-chr11:18026747..18028444,2	K562	blood:
2	chr11:18000487..18002989-chr11:18006898..18009156,2	MCF-7	breast:
3	chr11:17999634..18001155-chr11:18005906..18008712,2	K562	blood:
4	chr11:18005906..18008702-chr11:18033142..18034893,2	MCF-7	breast:
5	chr11:18005078..18007018-chr11:18007774..18009755,2	K562	blood:
6	chr11:18007709..18010705-chr11:18020081..18022716,2	MCF-7	breast:
7	chr11:18007256..18009129-chr11:18025177..18027765,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129158	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs211112	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs211124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2468767	1.00[AMR][1000 genomes]
rs2468791	1.00[AMR][1000 genomes]
rs2468835	1.00[AMR][1000 genomes]
rs61666152	1.00[AMR][1000 genomes]

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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv897026	chr11:17823296-18084878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv832079	chr11:17927967-18047743	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr11:17934400-18033600	Weak transcription	Small Intestine	intestine
2	chr11:17944000-18026600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:17945400-18010000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:17945400-18033400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:17961000-18016200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:17966400-18014400	Weak transcription	Fetal Thymus	thymus
7	chr11:17971200-18026000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:17973800-18008000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:17974600-18008600	Weak transcription	K562	blood
10	chr11:17975000-18020200	Weak transcription	A549	lung
11	chr11:17977600-18008400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:17978200-18016200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr11:17979800-18016400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:17980400-18033600	Weak transcription	Colonic Mucosa	Colon
15	chr11:17981200-18008000	Weak transcription	Brain Substantia Nigra	brain
16	chr11:17981200-18033200	Weak transcription	Esophagus	oesophagus
17	chr11:17989400-18023400	Weak transcription	Gastric	stomach
18	chr11:17989400-18033400	Weak transcription	Pancreas	Pancrea
19	chr11:17991000-18027000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr11:17993000-18008000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:17993800-18008600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:17994000-18033400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr11:17994600-18012200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:17996600-18032400	Weak transcription	Fetal Brain Male	brain
25	chr11:17998200-18012200	Strong transcription	Primary T cells from cord blood	blood
26	chr11:17998400-18033200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:17999000-18009800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:17999000-18009800	Weak transcription	Thymus	Thymus
29	chr11:18000200-18009000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:18000800-18014600	Weak transcription	Spleen	Spleen
31	chr11:18002400-18033800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr11:18002600-18010600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:18002600-18012200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr11:18002800-18012200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr11:18003600-18012400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr11:18003800-18011400	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr11:18004000-18008600	Weak transcription	Hela-S3	cervix
38	chr11:18004000-18011000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:18005000-18010400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:18005200-18010200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr11:18005200-18010200	Strong transcription	Brain Anterior Caudate	brain
42	chr11:18005200-18010400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:18005400-18010400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:18005400-18011000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr11:18005600-18010200	Strong transcription	Adipose Nuclei	Adipose
46	chr11:18005600-18011400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:18005600-18012000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr11:18005800-18008600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr11:18005800-18010200	Strong transcription	Brain Germinal Matrix	brain
50	chr11:18005800-18010400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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