Variant report

Variant	rs17244671
Chromosome Location	chr11:73574422-73574423
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73573157..73576108-chr11:73585479..73588302,2	MCF-7	breast:
2	chr11:73574387..73575953-chr11:73575970..73577570,2	MCF-7	breast:
3	chr11:73568596..73571925-chr11:73573759..73576003,3	K562	blood:
4	chr11:73572742..73574859-chr11:73586899..73588515,2	MCF-7	breast:
5	chr11:73572050..73574537-chr11:73596940..73598526,2	MCF-7	breast:
6	chr11:73528552..73530776-chr11:73572316..73575159,2	K562	blood:

Variant related genes	Relation type
ENSG00000181924	Chromatin interaction
ENSG00000175575	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1466218	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1531001	1.00[EUR][1000 genomes]
rs1623476	0.91[EUR][1000 genomes]
rs1670538	0.91[EUR][1000 genomes]
rs1670560	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1670561	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1670571	0.91[EUR][1000 genomes]
rs17310409	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1792164	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1792185	0.91[EUR][1000 genomes]
rs1792186	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1792194	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1792197	1.00[EUR][1000 genomes]
rs2511262	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2886812	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3019137	1.00[EUR][1000 genomes]
rs35133035	1.00[EUR][1000 genomes]
rs7480464	0.91[EUR][1000 genomes]
rs9651759	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv983206	chr11:73565238-73580462	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 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	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
2	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon
3	chr11:73508800-73575400	Weak transcription	Gastric	stomach
4	chr11:73518400-73584000	Weak transcription	Pancreas	Pancrea
5	chr11:73533000-73580400	Weak transcription	Stomach Mucosa	stomach
6	chr11:73537400-73582600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:73539000-73577200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:73539200-73583800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:73540800-73577400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:73541800-73583600	Weak transcription	Esophagus	oesophagus
11	chr11:73542400-73577400	Weak transcription	HUVEC	blood vessel
12	chr11:73542600-73577200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:73548800-73582000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:73549800-73583600	Weak transcription	GM12878-XiMat	blood
15	chr11:73550000-73577200	Weak transcription	HSMMtube	muscle
16	chr11:73550400-73577200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:73550400-73577200	Weak transcription	NH-A	brain
18	chr11:73550400-73582400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:73554200-73574800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr11:73554800-73575200	Weak transcription	Ovary	ovary
21	chr11:73555000-73577200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr11:73556200-73580400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:73556800-73575400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:73557000-73577200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:73560800-73575000	Weak transcription	Lung	lung
26	chr11:73561200-73579800	Weak transcription	Fetal Lung	lung
27	chr11:73564400-73586000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr11:73566000-73577600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:73566400-73574600	Weak transcription	Fetal Kidney	kidney
30	chr11:73566400-73577200	Weak transcription	HMEC	breast
31	chr11:73567600-73575200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:73567600-73577600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:73567600-73582200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr11:73567800-73575400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr11:73567800-73577200	Weak transcription	Fetal Heart	heart
36	chr11:73567800-73580600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr11:73568000-73574800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:73568200-73575000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr11:73568400-73575200	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:73568400-73575400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:73569800-73576400	Strong transcription	Dnd41	blood
42	chr11:73569800-73577800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:73570000-73575800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr11:73570400-73576400	Strong transcription	Fetal Stomach	stomach
45	chr11:73570600-73578200	Strong transcription	Primary T cells from cord blood	blood
46	chr11:73570800-73575600	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr11:73570800-73576000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:73570800-73576600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr11:73570800-73576600	Strong transcription	Duodenum Mucosa	Duodenum
50	chr11:73570800-73576600	Strong transcription	Rectal Mucosa Donor 29	rectum

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