Variant report

Variant	rs12417247
Chromosome Location	chr11:72867912-72867913
allele	A/G
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72852050..72854118-chr11:72867588..72870024,2	MCF-7	breast:
2	chr11:72865367..72868837-chr11:72873486..72875825,3	MCF-7	breast:
3	chr11:72856162..72862582-chr11:72862724..72869531,8	MCF-7	breast:
4	chr11:72852085..72853938-chr11:72866978..72868970,2	MCF-7	breast:
5	chr11:72865432..72868225-chr11:72873076..72874981,2	K562	blood:
6	chr11:72859228..72862613-chr11:72866065..72868868,5	K562	blood:
7	chr11:72865579..72869527-chr11:72872570..72875196,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FCHSD2-1	chr11:72866936-72868357	XLOC_009499

No data

Variant related genes	Relation type
ENSG00000137478	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12416806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12416851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12418733	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12420406	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12421033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131839	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[MKK][hapmap];0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs34406022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4578418	0.87[ASN][1000 genomes]
rs57027900	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59340990	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053737	chr11:72838564-72956847	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv386	chr11:72849097-72893807	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72854400-72871000	Enhancers	Fetal Muscle Leg	muscle
2	chr11:72854600-72871400	Enhancers	Spleen	Spleen
3	chr11:72854800-72872200	Enhancers	Primary B cells from peripheral blood	blood
4	chr11:72855000-72870200	Enhancers	Primary hematopoietic stem cells	blood
5	chr11:72855200-72870200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:72855200-72871200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr11:72856000-72871400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:72857800-72869000	Enhancers	Primary B cells from cord blood	blood
9	chr11:72859600-72868400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:72859600-72870400	Weak transcription	Brain Angular Gyrus	brain
11	chr11:72860200-72868000	Enhancers	Fetal Heart	heart
12	chr11:72860800-72868200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:72861200-72868200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr11:72861600-72869800	Enhancers	Fetal Thymus	thymus
15	chr11:72862600-72868800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr11:72862800-72871000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:72862800-72872000	Enhancers	Fetal Intestine Large	intestine
18	chr11:72863000-72871800	Enhancers	Fetal Intestine Small	intestine
19	chr11:72863200-72869200	Enhancers	Primary T cells fromperipheralblood	blood
20	chr11:72863400-72868000	Enhancers	Primary T cells from cord blood	blood
21	chr11:72863400-72869000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr11:72863400-72869400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr11:72863600-72868400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr11:72863600-72870800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr11:72863800-72871800	Enhancers	Placenta	Placenta
26	chr11:72864400-72871000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:72864600-72868200	Enhancers	HepG2	liver
28	chr11:72864600-72868400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:72865000-72868800	Weak transcription	Fetal Kidney	kidney
30	chr11:72865000-72870000	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:72865200-72868000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr11:72865200-72868400	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:72865400-72868800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr11:72865600-72868200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:72865800-72868200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr11:72865800-72869800	Enhancers	Right Atrium	heart
37	chr11:72866200-72868400	Weak transcription	Colonic Mucosa	Colon
38	chr11:72866400-72868200	Weak transcription	Liver	Liver
39	chr11:72866600-72868800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:72866800-72868200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr11:72867000-72868200	Enhancers	HSMM	muscle
42	chr11:72867000-72868200	Enhancers	NHLF	lung
43	chr11:72867000-72870200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:72867000-72870400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr11:72867000-72871000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:72867000-72871000	Flanking Active TSS	GM12878-XiMat	blood
47	chr11:72867000-72871600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:72867000-72871800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:72867200-72868200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:72867200-72868400	Enhancers	Osteobl	bone

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