Variant report

Variant	rs12294855
Chromosome Location	chr11:68099609-68099610
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:68083462..68086094-chr11:68098854..68101235,2	MCF-7	breast:
2	chr11:68098299..68100992-chr11:68139292..68141681,2	K562	blood:
3	chr11:68099361..68102252-chr11:68142403..68144649,2	MCF-7	breast:
4	chr11:68097347..68100235-chr11:68101839..68105597,4	K562	blood:
5	chr11:68079123..68081398-chr11:68099177..68102026,2	MCF-7	breast:
6	chr11:68093360..68101748-chr11:68101910..68108308,10	MCF-7	breast:
7	chr11:68098597..68100339-chr11:68105886..68107483,2	K562	blood:

Variant related genes	Relation type
ENSG00000162337	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11228195	1.00[EUR][1000 genomes]
rs12273064	1.00[EUR][1000 genomes]
rs12276515	1.00[EUR][1000 genomes]
rs12280773	1.00[EUR][1000 genomes]
rs12280982	1.00[EUR][1000 genomes]
rs12282027	1.00[EUR][1000 genomes]
rs12285801	1.00[EUR][1000 genomes]
rs2017727	1.00[EUR][1000 genomes]
rs28369501	1.00[EUR][1000 genomes]
rs28670727	1.00[EUR][1000 genomes]
rs314747	1.00[EUR][1000 genomes]
rs3867142	1.00[EUR][1000 genomes]
rs495137	1.00[EUR][1000 genomes]
rs57557564	1.00[EUR][1000 genomes]
rs57669893	1.00[EUR][1000 genomes]
rs59876914	1.00[EUR][1000 genomes]
rs60487218	1.00[EUR][1000 genomes]
rs7120407	1.00[EUR][1000 genomes]
rs7121045	1.00[EUR][1000 genomes]
rs754418	1.00[EUR][1000 genomes]
rs7937163	1.00[EUR][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	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	esv3347272	chr11:67969427-68218997	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer 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 miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv897857	chr11:68056770-68231240	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription 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	22 gene(s)	inside rSNPs	diseases
4	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68083800-68102400	Weak transcription	K562	blood
2	chr11:68090000-68101200	Enhancers	Adipose Nuclei	Adipose
3	chr11:68091000-68102000	Genic enhancers	Fetal Intestine Small	intestine
4	chr11:68091200-68100000	Enhancers	Gastric	stomach
5	chr11:68091400-68100000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:68091400-68100800	Enhancers	Lung	lung
7	chr11:68091400-68101200	Enhancers	Left Ventricle	heart
8	chr11:68091600-68100200	Enhancers	Right Ventricle	heart
9	chr11:68091600-68100400	Enhancers	Fetal Heart	heart
10	chr11:68091800-68100400	Enhancers	Right Atrium	heart
11	chr11:68091800-68101000	Enhancers	Stomach Mucosa	stomach
12	chr11:68092200-68100000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr11:68092400-68100000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:68092600-68100600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr11:68092800-68099800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:68092800-68100000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:68092800-68100200	Enhancers	Spleen	Spleen
18	chr11:68092800-68100800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr11:68093600-68100400	Enhancers	Placenta	Placenta
20	chr11:68094000-68100200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr11:68094000-68100600	Enhancers	Fetal Lung	lung
22	chr11:68094200-68100000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:68094200-68100600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr11:68094200-68101000	Enhancers	Colon Smooth Muscle	Colon
25	chr11:68094400-68100600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr11:68094400-68101000	Enhancers	Small Intestine	intestine
27	chr11:68094600-68100200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:68094600-68100800	Enhancers	Pancreas	Pancrea
29	chr11:68094600-68101000	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr11:68094800-68100600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr11:68095200-68099800	Enhancers	Fetal Kidney	kidney
32	chr11:68095600-68101000	Enhancers	Primary hematopoietic stem cells	blood
33	chr11:68095600-68102000	Enhancers	Liver	Liver
34	chr11:68096200-68101000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr11:68096200-68103000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:68096400-68100000	Enhancers	Brain Germinal Matrix	brain
37	chr11:68096400-68100200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr11:68096400-68100400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:68096400-68102200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr11:68096400-68103200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:68096600-68100000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:68096600-68100200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr11:68096600-68109400	Weak transcription	Brain Angular Gyrus	brain
44	chr11:68096600-68126000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:68097000-68100800	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr11:68097200-68100200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr11:68097400-68100400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr11:68097400-68100600	Enhancers	Fetal Muscle Leg	muscle
49	chr11:68097600-68103600	Weak transcription	HMEC	breast
50	chr11:68097600-68104200	Weak transcription	NHEK	skin

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