Variant report

Variant	rs17125548
Chromosome Location	chr11:121489563-121489564
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	chr11:121488832..121492923-chr11:121494735..121499119,4	K562	blood:

Variant related genes	Relation type
ENSG00000137642	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11218360	1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs11828225	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12274536	0.85[EUR][1000 genomes]
rs12274541	1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs12287339	1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs17125523	1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs3737529	1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs7127056	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[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	nsv975233	chr11:121359656-121574786	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv34768	chr11:121452651-121534938	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv818867	chr11:121472993-121534938	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2757477	chr11:121473598-121540642	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2759866	chr11:121473598-121540642	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv8875	chr11:121486151-121489601	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121448800-121495600	Weak transcription	Stomach Mucosa	stomach
2	chr11:121453200-121504200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr11:121453400-121491200	Weak transcription	Small Intestine	intestine
4	chr11:121453400-121505400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr11:121454000-121503800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:121454400-121504000	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr11:121454800-121503600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:121455600-121503800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:121456600-121501200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:121458000-121495000	Weak transcription	Right Ventricle	heart
11	chr11:121459200-121501400	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr11:121460400-121491800	Weak transcription	Left Ventricle	heart
13	chr11:121461000-121491200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:121461400-121506200	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:121461800-121505400	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:121462200-121490400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:121462200-121500400	Strong transcription	Fetal Thymus	thymus
18	chr11:121462200-121503600	Strong transcription	Primary B cells from cord blood	blood
19	chr11:121462200-121504200	Strong transcription	Dnd41	blood
20	chr11:121462200-121505600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr11:121462200-121505800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:121462400-121505200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr11:121462600-121495200	Weak transcription	Fetal Brain Male	brain
24	chr11:121462600-121503400	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr11:121463000-121525400	Weak transcription	Fetal Kidney	kidney
26	chr11:121463200-121504000	Strong transcription	Primary hematopoietic stem cells	blood
27	chr11:121463400-121505200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:121464600-121506000	Strong transcription	GM12878-XiMat	blood
29	chr11:121468200-121501800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:121469400-121496400	Weak transcription	Colon Smooth Muscle	Colon
31	chr11:121470400-121503800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:121472200-121503400	Strong transcription	Fetal Intestine Large	intestine
33	chr11:121472400-121496800	Strong transcription	NHEK	skin
34	chr11:121472400-121502800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:121472600-121500200	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr11:121472600-121503400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr11:121472600-121504000	Strong transcription	Duodenum Mucosa	Duodenum
38	chr11:121472600-121505800	Strong transcription	Primary T cells from cord blood	blood
39	chr11:121473200-121503400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr11:121473400-121493400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:121473800-121503400	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:121474000-121496800	Weak transcription	Fetal Muscle Leg	muscle
43	chr11:121474800-121505200	Strong transcription	Liver	Liver
44	chr11:121475200-121493400	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr11:121475400-121494000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:121475600-121501400	Strong transcription	HepG2	liver
47	chr11:121476600-121498000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:121477800-121490400	Weak transcription	Pancreas	Pancrea
49	chr11:121477800-121493200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:121479600-121500200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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