Variant report

Variant	rs35441007
Chromosome Location	chr12:58299553-58299554
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58209675..58210419-chr12:58299140..58299744,2	MCF-7	breast:
2	chr12:58174946..58176646-chr12:58299150..58302148,2	K562	blood:
3	chr12:58196800..58197842-chr12:58298861..58299712,6	K562	blood:
4	chr12:58298839..58299678-chr5:35963312..35964081,2	MCF-7	breast:
5	chr12:58228517..58230592-chr12:58298078..58299845,2	MCF-7	breast:
6	chr12:58152878..58153571-chr12:58299170..58299699,2	MCF-7	breast:
7	chr12:58224854..58226524-chr12:58298322..58299858,37	K562	blood:
8	chr12:58131382..58132075-chr12:58298920..58299767,2	MCF-7	breast:
9	chr12:58164497..58167475-chr12:58297989..58300788,2	K562	blood:
10	chr12:58215853..58216628-chr12:58298828..58299626,2	MCF-7	breast:
11	chr12:58196855..58197808-chr12:58298546..58299692,9	MCF-7	breast:
12	chr12:58299276..58301907-chr12:58305414..58307354,2	MCF-7	breast:
13	chr12:58299223..58301569-chr12:58315233..58317786,2	K562	blood:
14	chr12:58238650..58240724-chr12:58299517..58301616,2	K562	blood:
15	chr1:145058445..145059351-chr12:58299064..58299785,2	MCF-7	breast:
16	chr12:58218978..58221776-chr12:58299354..58301080,2	MCF-7	breast:
17	chr12:58238316..58242683-chr12:58295473..58302602,14	MCF-7	breast:
18	chr12:58208021..58208650-chr12:58298908..58299650,2	MCF-7	breast:
19	chr12:58224317..58226991-chr12:58298753..58300053,48	MCF-7	breast:
20	chr12:58175991..58177012-chr12:58298853..58299761,6	MCF-7	breast:
21	chr12:58129311..58130058-chr12:58298904..58299889,3	MCF-7	breast:
22	chr12:58209706..58210690-chr12:58298859..58299759,3	K562	blood:
23	chr12:58298965..58299695-chr20:52486173..52486891,2	MCF-7	breast:
24	chr12:58236196..58241196-chr12:58294118..58300852,8	MCF-7	breast:
25	chr12:58236689..58239049-chr12:58299056..58300765,2	K562	blood:
26	chr12:58257823..58260451-chr12:58297439..58299655,2	MCF-7	breast:
27	chr12:58298311..58300841-chr12:58328319..58331266,4	MCF-7	breast:
28	chr12:58196809..58197769-chr12:58298831..58299866,14	MCF-7	breast:
29	chr12:58298918..58299799-chr12:58311798..58312758,4	MCF-7	breast:
30	chr12:58208670..58209316-chr12:58298909..58299857,2	MCF-7	breast:
31	chr12:58240067..58240814-chr12:58298844..58299779,2	K562	blood:
32	chr12:58290452..58291289-chr12:58298885..58299685,2	MCF-7	breast:
33	chr12:58150276..58151163-chr12:58298941..58299639,3	K562	blood:
34	chr12:58233992..58236447-chr12:58297834..58300424,2	K562	blood:
35	chr12:58224418..58226286-chr12:58298796..58299791,24	MCF-7	breast:
36	chr12:58176005..58176966-chr12:58298816..58299581,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175215	Chromatin interaction
ENSG00000135407	Chromatin interaction
ENSG00000257698	Chromatin interaction
ENSG00000257921	Chromatin interaction
ENSG00000269903	Chromatin interaction
ENSG00000037897	Chromatin interaction
ENSG00000270039	Chromatin interaction
ENSG00000135439	Chromatin interaction
ENSG00000123427	Chromatin interaction
ENSG00000123297	Chromatin interaction
ENSG00000135452	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11172376	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11172377	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11834260	0.95[ASN][1000 genomes]
rs12296922	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309291	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12322495	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322586	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17119981	0.95[ASN][1000 genomes]
rs17119991	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34241380	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34372362	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35985500	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61935768	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 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	chr12:58298200-58299600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr12:58298200-58300200	Enhancers	Fetal Thymus	thymus
3	chr12:58298800-58299600	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:58298800-58299600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:58298800-58299600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr12:58298800-58299600	Enhancers	Fetal Muscle Trunk	muscle
7	chr12:58298800-58299600	Enhancers	Placenta	Placenta
8	chr12:58298800-58299600	Enhancers	Dnd41	blood
9	chr12:58298800-58299600	Enhancers	Hela-S3	cervix
10	chr12:58298800-58299800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:58299000-58299600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:58299000-58299600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:58299000-58299600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:58299000-58299600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:58299000-58299600	Enhancers	Primary T cells from cord blood	blood
16	chr12:58299000-58299600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr12:58299000-58299600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:58299000-58299600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr12:58299000-58299600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr12:58299000-58299600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:58299000-58299600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:58299000-58299600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr12:58299000-58299600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:58299000-58299600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr12:58299000-58299600	Enhancers	Brain Substantia Nigra	brain
26	chr12:58299000-58299600	Enhancers	Colon Smooth Muscle	Colon
27	chr12:58299000-58299600	Enhancers	Duodenum Mucosa	Duodenum
28	chr12:58299000-58299600	Enhancers	Fetal Intestine Large	intestine
29	chr12:58299000-58299600	Enhancers	Fetal Lung	lung
30	chr12:58299000-58299600	Enhancers	Fetal Stomach	stomach
31	chr12:58299000-58299600	Enhancers	Ovary	ovary
32	chr12:58299000-58299600	Enhancers	Psoas Muscle	Psoas
33	chr12:58299000-58299600	Enhancers	Rectal Smooth Muscle	rectum
34	chr12:58299000-58299600	Enhancers	Right Ventricle	heart
35	chr12:58299000-58299600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr12:58299000-58299600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr12:58299000-58299600	Enhancers	Thymus	Thymus
38	chr12:58299000-58299600	Enhancers	HMEC	breast
39	chr12:58299000-58299600	Enhancers	HUVEC	blood vessel
40	chr12:58299000-58299600	Enhancers	K562	blood
41	chr12:58299000-58299600	Enhancers	NHEK	skin
42	chr12:58299000-58299800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:58299200-58299600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
44	chr12:58299200-58299600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:58299200-58299600	Enhancers	Adipose Nuclei	Adipose
46	chr12:58299200-58299600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:58299200-58299600	Enhancers	Right Atrium	heart
48	chr12:58299200-58299600	Enhancers	HepG2	liver
49	chr12:58299200-58300000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr12:58299200-58300000	Enhancers	Stomach Smooth Muscle	stomach

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