Variant report

Variant	rs12504455
Chromosome Location	chr4:22382470-22382471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13132217	0.82[ASN][1000 genomes]
rs2126636	0.91[ASN][1000 genomes]
rs35087972	0.86[ASN][1000 genomes]
rs4697012	0.91[ASN][1000 genomes]
rs4697297	0.82[ASN][1000 genomes]
rs6855769	0.89[ASN][1000 genomes]
rs7697042	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817467	chr4:21602921-22422816	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv428756	chr4:22239826-22406106	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22329000-22389400	Weak transcription	Pancreas	Pancrea
2	chr4:22336600-22385400	Weak transcription	Fetal Intestine Large	intestine
3	chr4:22365600-22386800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:22365800-22384600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:22366000-22385000	Weak transcription	NHEK	skin
6	chr4:22368800-22418600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:22371600-22449800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:22372000-22400400	Weak transcription	Gastric	stomach
9	chr4:22374800-22383600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:22375000-22385000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:22376000-22385200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:22376400-22389200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:22377600-22389800	Weak transcription	Colon Smooth Muscle	Colon
14	chr4:22378600-22389200	Weak transcription	Aorta	Aorta
15	chr4:22379800-22384800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:22380800-22384600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:22381400-22390200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:22381600-22384000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:22381600-22387800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr4:22382000-22384600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:22382200-22386800	Weak transcription	Fetal Intestine Small	intestine
22	chr4:22382400-22385200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:22382400-22385400	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:22382400-22389200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:22382400-22389400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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