Variant report

Variant	rs12754081
Chromosome Location	chr1:214454931-214454932
allele	C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:214454543..214455127-chrX:47093123..47093704,2	HCT-116	colon:
2	chr1:214454464..214455442-chr5:33440977..33441733,2	Hela-S3	cervix:
3	chr1:214452363..214455450-chr1:214775239..214777636,3	K562	blood:
4	chr1:214454828..214456756-chr1:214488349..214489973,2	MCF-7	breast:
5	chr1:214453197..214455713-chr1:214724274..214726472,2	MCF-7	breast:
6	chr1:214454710..214457549-chr7:26301869..26304423,2	MCF-7	breast:
7	chr1:214452237..214456498-chr1:214498464..214506870,12	MCF-7	breast:
8	chr1:214454372..214455143-chr17:48711946..48712620,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000152104	Chromatin interaction
ENSG00000108846	Chromatin interaction
ENSG00000113407	Chromatin interaction
ENSG00000143499	Chromatin interaction
ENSG00000102226	Chromatin interaction
ENSG00000117724	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11120286	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12031337	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12039689	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407415	0.84[ASN][1000 genomes]
rs12724396	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12755490	0.84[ASN][1000 genomes]
rs2067945	0.84[ASN][1000 genomes]
rs2119336	0.86[ASN][1000 genomes]
rs34103218	0.84[ASN][1000 genomes]
rs34161369	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34244779	0.84[ASN][1000 genomes]
rs34960781	0.84[ASN][1000 genomes]
rs35843830	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36038181	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs985853	0.96[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	esv3366467	chr1:214453679-214455877	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214453200-214455000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
2	chr1:214453200-214456000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr1:214453400-214455600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr1:214453400-214455600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:214453400-214455600	Active TSS	NHLF	lung
6	chr1:214453400-214455800	Active TSS	Brain Substantia Nigra	brain
7	chr1:214453600-214455000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:214453600-214455200	Active TSS	Fetal Stomach	stomach
9	chr1:214453600-214455200	Active TSS	Pancreas	Pancrea
10	chr1:214453600-214455200	Active TSS	Rectal Smooth Muscle	rectum
11	chr1:214453600-214455200	Active TSS	HSMM	muscle
12	chr1:214453600-214455400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:214453600-214455400	Active TSS	Fetal Brain Female	brain
14	chr1:214453600-214455600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:214453600-214455600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:214453600-214455600	Active TSS	Aorta	Aorta
17	chr1:214453800-214455000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:214453800-214455000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:214453800-214455000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:214453800-214455000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:214453800-214455000	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:214453800-214455000	Active TSS	Liver	Liver
23	chr1:214453800-214455200	Active TSS	H9 Cell Line	embryonic stem cell
24	chr1:214453800-214455200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr1:214453800-214455200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:214453800-214455200	Active TSS	Brain Angular Gyrus	brain
27	chr1:214453800-214455200	Active TSS	Esophagus	oesophagus
28	chr1:214453800-214455200	Active TSS	Gastric	stomach
29	chr1:214453800-214455200	Active TSS	Lung	lung
30	chr1:214453800-214455200	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr1:214453800-214455200	Active TSS	Small Intestine	intestine
32	chr1:214453800-214455200	Active TSS	NHDF-Ad	bronchial
33	chr1:214453800-214455400	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr1:214453800-214455400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr1:214453800-214455400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:214453800-214455400	Active TSS	Stomach Smooth Muscle	stomach
37	chr1:214453800-214455600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:214453800-214455600	Active TSS	Colonic Mucosa	Colon
39	chr1:214453800-214455600	Active TSS	Fetal Intestine Large	intestine
40	chr1:214453800-214455600	Active TSS	Fetal Intestine Small	intestine
41	chr1:214453800-214455600	Active TSS	Ovary	ovary
42	chr1:214453800-214455600	Active TSS	Psoas Muscle	Psoas
43	chr1:214453800-214455600	Active TSS	Stomach Mucosa	stomach
44	chr1:214453800-214455600	Active TSS	A549	lung
45	chr1:214453800-214455800	Active TSS	Colon Smooth Muscle	Colon
46	chr1:214453800-214455800	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr1:214453800-214456000	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr1:214453800-214456200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:214453800-214456600	Active TSS	Left Ventricle	heart
50	chr1:214453800-214456600	Active TSS	Right Ventricle	heart

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