Variant report

Variant	rs11168958
Chromosome Location	chr12:49664855-49664856
allele	A/C
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49453019..49455407-chr12:49664114..49666981,2	K562	blood:
2	chr12:49664091..49667882-chr12:49690109..49694759,4	K562	blood:
3	chr12:49663971..49666837-chr12:49712458..49715347,2	K562	blood:
4	chr12:49462240..49465825-chr12:49663317..49667869,4	K562	blood:
5	chr12:49449335..49458365-chr12:49656751..49666981,25	K562	blood:
6	chr12:49523250..49526538-chr12:49663846..49666716,3	K562	blood:
7	chr12:49660927..49665723-chr12:49685096..49688729,4	MCF-7	breast:
8	chr12:49523250..49526352-chr12:49663846..49665952,5	K562	blood:
9	chr12:49523333..49525156-chr12:49664494..49666350,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000123416	Chromatin interaction
ENSG00000135406	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000167550	Chromatin interaction
ENSG00000258017	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1109811	0.86[AFR][1000 genomes]
rs11168938	0.97[AFR][1000 genomes]
rs11168939	0.97[AFR][1000 genomes]
rs11168940	0.97[AFR][1000 genomes]
rs11168942	0.97[AFR][1000 genomes]
rs11168952	0.92[AFR][1000 genomes]
rs11168953	0.82[AFR][1000 genomes]
rs11168954	0.92[AFR][1000 genomes]
rs11168955	0.88[AFR][1000 genomes]
rs11168956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304483	0.94[AFR][1000 genomes]
rs12308571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12309028	0.82[AFR][1000 genomes]
rs12310093	0.92[AFR][1000 genomes]
rs3759170	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49659200-49673600	Weak transcription	Fetal Brain Male	brain
2	chr12:49659600-49668600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:49659600-49669600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:49659600-49673600	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:49659800-49668600	Weak transcription	Right Atrium	heart
6	chr12:49661000-49668000	Strong transcription	H9 Cell Line	embryonic stem cell
7	chr12:49661000-49669800	Strong transcription	Fetal Stomach	stomach
8	chr12:49661600-49667400	Weak transcription	Fetal Heart	heart
9	chr12:49661600-49668000	Strong transcription	Fetal Thymus	thymus
10	chr12:49661600-49670600	Weak transcription	Psoas Muscle	Psoas
11	chr12:49661800-49668000	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:49662000-49666400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:49662000-49667800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:49662000-49667800	Strong transcription	Dnd41	blood
15	chr12:49662000-49668000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:49662000-49668600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:49662200-49668600	Strong transcription	Primary T cells from cord blood	blood
18	chr12:49662600-49665200	Strong transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:49662600-49665400	Strong transcription	Fetal Kidney	kidney
20	chr12:49662600-49668000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:49662600-49668400	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr12:49662600-49669000	Strong transcription	Fetal Muscle Leg	muscle
23	chr12:49662800-49666000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:49662800-49667200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:49662800-49667400	Strong transcription	GM12878-XiMat	blood
26	chr12:49662800-49667800	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:49662800-49667800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:49662800-49667800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:49662800-49673400	Weak transcription	Brain Anterior Caudate	brain
30	chr12:49662800-49673400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:49662800-49673400	Weak transcription	Brain Substantia Nigra	brain
32	chr12:49663000-49667400	Strong transcription	HepG2	liver
33	chr12:49663000-49667800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:49663000-49668000	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr12:49663000-49668000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:49663000-49668200	Strong transcription	Fetal Muscle Trunk	muscle
37	chr12:49663000-49668400	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:49663000-49669600	Strong transcription	Thymus	Thymus
39	chr12:49663000-49669800	Strong transcription	Fetal Intestine Small	intestine
40	chr12:49663200-49665400	Strong transcription	Primary hematopoietic stem cells	blood
41	chr12:49663200-49665400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:49663200-49665600	Strong transcription	Right Ventricle	heart
43	chr12:49663200-49665800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:49663200-49665800	Strong transcription	Fetal Brain Female	brain
45	chr12:49663200-49667400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:49663200-49667400	Strong transcription	Pancreas	Pancrea
47	chr12:49663200-49667800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:49663200-49667800	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr12:49663200-49667800	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr12:49663200-49667800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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