Variant report

Variant	rs12093427
Chromosome Location	chr1:176147278-176147279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:176145023..176147721-chr1:176151866..176154637,2	K562	blood:
2	chr1:176145023..176148582-chr1:176151317..176154637,3	K562	blood:

Variant related genes	Relation type
ENSG00000143207	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12068738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12084102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660070	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs7532425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs7545685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[EUR][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	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv872565	chr1:176058782-176172795	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176065600-176154800	Weak transcription	Aorta	Aorta
2	chr1:176070400-176151400	Weak transcription	Pancreas	Pancrea
3	chr1:176100800-176153200	Weak transcription	Colonic Mucosa	Colon
4	chr1:176110600-176164000	Weak transcription	NHLF	lung
5	chr1:176123800-176150000	Weak transcription	Osteobl	bone
6	chr1:176126400-176168800	Weak transcription	Small Intestine	intestine
7	chr1:176127000-176174000	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:176127200-176153400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:176127400-176153400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:176127400-176155400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:176128000-176157800	Weak transcription	Spleen	Spleen
12	chr1:176128000-176175200	Weak transcription	Esophagus	oesophagus
13	chr1:176128400-176154600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:176128600-176155600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:176128800-176152800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:176128800-176152800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:176128800-176154200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:176132200-176154200	Weak transcription	NH-A	brain
19	chr1:176134400-176152800	Weak transcription	Brain Angular Gyrus	brain
20	chr1:176136200-176147400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:176137400-176173000	Weak transcription	Right Ventricle	heart
22	chr1:176138200-176155800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:176138800-176155400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:176139000-176153800	Strong transcription	Dnd41	blood
25	chr1:176139800-176149200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:176139800-176152600	Weak transcription	Brain Anterior Caudate	brain
27	chr1:176140000-176155800	Weak transcription	Fetal Brain Female	brain
28	chr1:176140000-176157800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:176140000-176168200	Weak transcription	Psoas Muscle	Psoas
30	chr1:176140200-176150200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:176140200-176152200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:176140600-176148200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:176140800-176148400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:176140800-176149200	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:176140800-176153600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:176140800-176155800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:176141800-176147400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:176142200-176149200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:176142200-176149200	Weak transcription	Hela-S3	cervix
40	chr1:176142200-176153400	Weak transcription	Fetal Heart	heart
41	chr1:176142200-176154400	Weak transcription	Fetal Kidney	kidney
42	chr1:176142400-176149600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:176142800-176149800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:176142800-176157800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:176142800-176162200	Weak transcription	HepG2	liver
46	chr1:176143000-176150600	Weak transcription	Fetal Intestine Small	intestine
47	chr1:176143000-176150600	Weak transcription	Thymus	Thymus
48	chr1:176143000-176151200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:176143000-176153000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:176143000-176165800	Weak transcription	Lung	lung

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