Variant report

Variant	rs17118141
Chromosome Location	chr12:56347206-56347207
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: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	chr12:56222623..56225394-chr12:56346640..56348578,2	K562	blood:
2	chr12:56318513..56323358-chr12:56346151..56349389,6	MCF-7	breast:
3	chr12:56330972..56338064-chr12:56344899..56352450,13	MCF-7	breast:
4	chr12:56120505..56122635-chr12:56345271..56347933,2	K562	blood:
5	chr12:56324205..56326557-chr12:56345511..56347767,3	MCF-7	breast:
6	chr12:56343431..56347236-chr12:56348315..56351520,6	MCF-7	breast:
7	chr12:56346732..56350497-chr12:56509495..56512206,3	MCF-7	breast:
8	chr12:56324994..56327276-chr12:56346740..56350037,3	MCF-7	breast:
9	chr12:56320942..56323353-chr12:56346248..56347788,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139641	Chromatin interaction
ENSG00000135404	Chromatin interaction
ENSG00000185664	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000170473	Chromatin interaction
ENSG00000135482	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11171688	1.00[CHB][hapmap]
rs12300205	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12305850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56328800-56352200	Weak transcription	Small Intestine	intestine
2	chr12:56334000-56349800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:56334200-56349800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:56334400-56347400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:56334400-56348400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:56334400-56349400	Strong transcription	Thymus	Thymus
7	chr12:56334600-56347400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:56334600-56348000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:56334600-56348400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:56334600-56349000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:56334600-56349000	Weak transcription	Brain Substantia Nigra	brain
12	chr12:56334600-56349000	Strong transcription	NHEK	skin
13	chr12:56334600-56349400	Strong transcription	Dnd41	blood
14	chr12:56334600-56349800	Weak transcription	Stomach Mucosa	stomach
15	chr12:56335000-56348400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:56335000-56349400	Weak transcription	Fetal Brain Male	brain
17	chr12:56335400-56350000	Strong transcription	Fetal Thymus	thymus
18	chr12:56336400-56349200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:56336800-56349000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:56336800-56350000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:56336800-56350400	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:56336800-56351600	Strong transcription	Primary T cells from cord blood	blood
23	chr12:56338400-56349400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:56339200-56349200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:56339400-56347800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:56341400-56348200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:56341600-56349400	Strong transcription	Fetal Stomach	stomach
28	chr12:56343600-56350000	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr12:56344400-56348200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr12:56344600-56348400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr12:56344600-56349000	Strong transcription	HMEC	breast
32	chr12:56344600-56349200	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr12:56344800-56348200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:56344800-56348200	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr12:56344800-56348200	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr12:56344800-56348400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:56344800-56348400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:56344800-56348400	Strong transcription	Primary B cells from cord blood	blood
39	chr12:56344800-56348800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:56344800-56349000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:56344800-56349200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:56344800-56349600	Strong transcription	Duodenum Mucosa	Duodenum
43	chr12:56344800-56349600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr12:56345000-56347400	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:56345000-56347600	Strong transcription	Aorta	Aorta
46	chr12:56345000-56348000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:56345000-56348000	Strong transcription	Osteobl	bone
48	chr12:56345000-56348200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:56345000-56348200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
50	chr12:56345000-56348200	Strong transcription	HSMM	muscle

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