Variant report

Variant	rs12568297
Chromosome Location	chr1:226544606-226544607
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226543345..226545616-chr1:226561219..226563673,2	MCF-7	breast:
2	chr1:226524210..226526887-chr1:226544305..226546292,2	K562	blood:
3	chr1:226544118..226547809-chr1:226563344..226565796,4	K562	blood:
4	chr1:226544539..226548869-chr1:226552185..226555884,5	K562	blood:
5	chr1:226543572..226546310-chr1:226549166..226551111,2	MCF-7	breast:
6	chr1:226312179..226314920-chr1:226542073..226545038,2	K562	blood:
7	chr1:226373268..226375676-chr1:226542330..226545311,2	K562	blood:

Variant related genes	Relation type
ENSG00000182827	Chromatin interaction
ENSG00000270598	Chromatin interaction
ENSG00000143799	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3219110	1.00[JPT][hapmap]

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	nsv832770	chr1:226465130-226655512	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226537000-226549200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:226538000-226546200	Weak transcription	HMEC	breast
3	chr1:226538000-226547800	Weak transcription	Colonic Mucosa	Colon
4	chr1:226538200-226544800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:226538200-226545000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr1:226538200-226545400	Weak transcription	Fetal Lung	lung
7	chr1:226538200-226545800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:226538200-226545800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr1:226538200-226546600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:226538200-226547800	Weak transcription	HUVEC	blood vessel
11	chr1:226538400-226545400	Weak transcription	Fetal Kidney	kidney
12	chr1:226538400-226546000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:226538400-226546600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:226538400-226546600	Weak transcription	NH-A	brain
15	chr1:226538400-226566800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:226538600-226545000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:226538600-226545400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:226538600-226545600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:226538600-226545600	Weak transcription	Fetal Thymus	thymus
20	chr1:226538600-226545800	Weak transcription	Pancreas	Pancrea
21	chr1:226538600-226546000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:226538600-226547400	Weak transcription	HepG2	liver
23	chr1:226538600-226547600	Weak transcription	Gastric	stomach
24	chr1:226538600-226547800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:226538600-226550400	Weak transcription	Small Intestine	intestine
26	chr1:226539800-226545200	Weak transcription	Adipose Nuclei	Adipose
27	chr1:226540000-226546000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:226540800-226545600	Enhancers	Left Ventricle	heart
29	chr1:226541200-226545200	Weak transcription	Fetal Intestine Large	intestine
30	chr1:226541200-226546000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:226541200-226546600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:226541400-226551600	Weak transcription	Stomach Mucosa	stomach
33	chr1:226541800-226545400	Weak transcription	Liver	Liver
34	chr1:226541800-226545600	Weak transcription	Esophagus	oesophagus
35	chr1:226541800-226545800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:226541800-226546000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:226541800-226546200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr1:226541800-226546400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:226541800-226546800	Weak transcription	NHLF	lung
40	chr1:226541800-226549200	Weak transcription	NHEK	skin
41	chr1:226541800-226550600	Weak transcription	NHDF-Ad	bronchial
42	chr1:226542000-226545400	Weak transcription	Thymus	Thymus
43	chr1:226542000-226546000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:226542200-226544800	Enhancers	Fetal Brain Male	brain
45	chr1:226542200-226544800	Weak transcription	Spleen	Spleen
46	chr1:226542200-226544800	Enhancers	HSMMtube	muscle
47	chr1:226542200-226545400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:226542200-226545400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:226542200-226546400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr1:226542400-226545400	Weak transcription	Placenta	Placenta

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