Variant report

Variant	rs12281974
Chromosome Location	chr11:75118753-75118754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75116817..75118910-chr11:75131557..75134243,2	K562	blood:
2	chr11:75116665..75120426-chr11:75160804..75164163,3	K562	blood:
3	chr11:75115990..75119066-chr11:75236154..75238810,3	K562	blood:
4	chr11:75118496..75120014-chr11:75135285..75137325,2	K562	blood:
5	chr11:75116986..75119499-chr11:75235046..75238810,4	K562	blood:
6	chr11:75117419..75119045-chr11:75226562..75228650,2	K562	blood:
7	chr11:75116302..75120034-chr11:75143308..75145079,3	MCF-7	breast:
8	chr11:75053294..75054862-chr11:75117237..75118876,2	MCF-7	breast:
9	chr11:75040053..75042610-chr11:75118135..75119953,2	K562	blood:
10	chr11:75017821..75020179-chr11:75116182..75118879,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000158555	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11236424	1.00[AMR][1000 genomes]
rs11236425	1.00[AMR][1000 genomes]
rs11236426	1.00[AMR][1000 genomes]
rs11236443	1.00[AMR][1000 genomes]
rs11236446	1.00[AMR][1000 genomes]
rs12272513	1.00[AMR][1000 genomes]
rs12274327	1.00[AMR][1000 genomes]
rs12275690	1.00[AMR][1000 genomes]
rs12277069	1.00[AMR][1000 genomes]
rs12277708	1.00[AMR][1000 genomes]
rs12286009	1.00[AMR][1000 genomes]
rs12288089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12289922	1.00[AMR][1000 genomes]
rs12292511	1.00[AMR][1000 genomes]
rs12292958	1.00[AMR][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	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv1799276	chr11:75104200-75135434	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
4	nsv897921	chr11:75115893-75147661	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897922	chr11:75116733-75147661	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75112400-75120200	Strong transcription	Stomach Smooth Muscle	stomach
2	chr11:75112600-75120000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr11:75112800-75120200	Strong transcription	Brain Inferior Temporal Lobe	brain
4	chr11:75113200-75120200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:75113200-75120200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:75113200-75120400	Strong transcription	Placenta	Placenta
7	chr11:75113400-75119600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:75113400-75120200	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:75113400-75120200	Strong transcription	Primary B cells from cord blood	blood
10	chr11:75113400-75120200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr11:75113400-75120200	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:75113600-75120000	Weak transcription	Right Atrium	heart
13	chr11:75113600-75120200	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr11:75113600-75120200	Strong transcription	Liver	Liver
15	chr11:75113600-75120200	Strong transcription	Fetal Stomach	stomach
16	chr11:75113600-75120200	Strong transcription	Thymus	Thymus
17	chr11:75113600-75120200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr11:75113800-75119000	Strong transcription	Primary B cells from peripheral blood	blood
19	chr11:75114000-75119200	Strong transcription	Fetal Brain Female	brain
20	chr11:75114000-75119600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:75114000-75120000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:75114200-75120000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:75114200-75120000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:75114200-75120200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:75114200-75120200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:75114200-75120200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:75114200-75120200	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:75114400-75119200	Strong transcription	Fetal Muscle Leg	muscle
29	chr11:75114400-75119600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:75114400-75120000	Strong transcription	Primary hematopoietic stem cells	blood
31	chr11:75114400-75120000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:75114400-75120200	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:75114600-75120200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:75114600-75120200	Strong transcription	Duodenum Mucosa	Duodenum
35	chr11:75114600-75120400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:75114600-75120400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:75114600-75120400	Strong transcription	Fetal Thymus	thymus
38	chr11:75114600-75121200	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr11:75114800-75120200	Strong transcription	Fetal Intestine Small	intestine
40	chr11:75115400-75119800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:75115400-75120200	Strong transcription	Fetal Intestine Large	intestine
42	chr11:75115600-75119400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:75115600-75120000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:75115600-75120000	Strong transcription	HSMMtube	muscle
45	chr11:75115600-75120200	Strong transcription	Primary T cells from cord blood	blood
46	chr11:75115600-75120200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr11:75115600-75120200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:75115600-75120200	Genic enhancers	A549	lung
49	chr11:75115600-75120400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:75115600-75132200	Weak transcription	Fetal Brain Male	brain

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