Variant report

Variant	rs12049897
Chromosome Location	chr11:66446902-66446903
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:25)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66174524..66177610-chr11:66443614..66447044,3	K562	blood:
2	chr11:66205529..66207544-chr11:66444301..66447000,2	K562	blood:
3	chr11:66138830..66140876-chr11:66445335..66446976,2	K562	blood:
4	chr11:66334662..66337726-chr11:66444588..66447609,3	K562	blood:
5	chr11:66445616..66447935-chr11:66793859..66796620,2	MCF-7	breast:
6	chr11:66277230..66279524-chr11:66443471..66447477,3	K562	blood:
7	chr11:66446400..66449303-chr11:66493649..66495153,2	K562	blood:
8	chr11:66405952..66409597-chr11:66443012..66447533,6	MCF-7	breast:
9	chr11:66405423..66410273-chr11:66443859..66447584,9	K562	blood:
10	chr11:66444643..66447365-chr11:66608477..66611039,2	MCF-7	breast:
11	chr11:66245337..66248539-chr11:66443366..66447095,4	MCF-7	breast:
12	chr11:66446004..66448694-chr11:66609330..66611884,4	MCF-7	breast:
13	chr11:66204879..66207295-chr11:66445367..66447179,3	MCF-7	breast:
14	chr11:66405112..66408239-chr11:66443909..66446987,4	MCF-7	breast:
15	chr11:66288188..66290854-chr11:66445511..66447353,2	MCF-7	breast:
16	chr11:66246731..66249158-chr11:66445460..66447087,2	MCF-7	breast:
17	chr11:66346606..66348221-chr11:66445903..66447452,2	K562	blood:
18	chr11:66445411..66447055-chr11:66460652..66462568,2	K562	blood:
19	chr11:66444660..66446935-chr11:66583222..66585831,2	MCF-7	breast:
20	chr11:66382408..66387659-chr11:66442901..66446973,11	MCF-7	breast:
21	chr11:66444530..66447369-chr11:66455344..66460090,5	K562	blood:
22	chr11:66175311..66177198-chr11:66444334..66447325,3	MCF-7	breast:
23	chr11:66313613..66315328-chr11:66445220..66447072,2	MCF-7	breast:
24	chr11:66382625..66386755-chr11:66442635..66447327,8	K562	blood:
25	chr11:66443889..66447498-chr11:66608460..66612257,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RBM4-2	chr11:66445277-66448988	NONHSAT022342

No data

Variant related genes	Relation type
ENSG00000173898	Chromatin interaction
ENSG00000173653	Chromatin interaction
ENSG00000174483	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000255517	Chromatin interaction
ENSG00000174547	Chromatin interaction
ENSG00000199325	Chromatin interaction
ENSG00000248746	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000254986	Chromatin interaction
ENSG00000173933	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000174165	Chromatin interaction
ENSG00000254510	Chromatin interaction
ENSG00000174080	Chromatin interaction
ENSG00000173715	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11227539	0.83[ASN][1000 genomes]
rs11227560	0.99[ASN][1000 genomes]
rs11227562	0.99[ASN][1000 genomes]
rs11227570	0.83[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11227574	0.97[ASN][1000 genomes]
rs11227587	0.81[ASN][1000 genomes]
rs11227591	0.81[ASN][1000 genomes]
rs2276136	1.00[ASN][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	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv518919	chr11:66409409-66468469	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv897791	chr11:66442855-66533469	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66445600-66452400	Weak transcription	Spleen	Spleen
2	chr11:66446000-66452200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:66446000-66455800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:66446000-66457400	Weak transcription	Gastric	stomach
5	chr11:66446200-66447200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr11:66446200-66450800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:66446200-66450800	Weak transcription	Fetal Brain Female	brain
8	chr11:66446200-66451000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:66446200-66451000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:66446200-66451000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:66446200-66451000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:66446200-66451000	Weak transcription	Brain Germinal Matrix	brain
13	chr11:66446200-66451200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:66446200-66451200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:66446200-66451400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:66446200-66451400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:66446200-66451400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:66446200-66451400	Weak transcription	Esophagus	oesophagus
19	chr11:66446200-66451600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr11:66446200-66451800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:66446200-66451800	Weak transcription	NHEK	skin
22	chr11:66446200-66452200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:66446200-66452200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:66446200-66452200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:66446200-66452200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:66446200-66452400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:66446200-66452600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:66446200-66452600	Weak transcription	Fetal Stomach	stomach
29	chr11:66446200-66452800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:66446200-66453000	Weak transcription	Brain Anterior Caudate	brain
31	chr11:66446200-66453200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:66446200-66453400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:66446200-66453400	Weak transcription	Pancreas	Pancrea
34	chr11:66446200-66453600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr11:66446200-66453800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:66446200-66454400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:66446200-66456800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr11:66446200-66457200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr11:66446200-66457800	Weak transcription	Brain Angular Gyrus	brain
40	chr11:66446200-66458800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:66446200-66461400	Weak transcription	K562	blood
42	chr11:66446200-66461800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr11:66446200-66465800	Weak transcription	A549	lung
44	chr11:66446200-66468000	Weak transcription	Lung	lung
45	chr11:66446200-66468600	Weak transcription	Right Ventricle	heart
46	chr11:66446200-66480200	Weak transcription	Fetal Kidney	kidney
47	chr11:66446200-66485800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr11:66446400-66451000	Weak transcription	Liver	Liver
49	chr11:66446400-66453600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:66446400-66457400	Weak transcription	Brain Hippocampus Middle	brain

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