Variant report

Variant	rs12063241
Chromosome Location	chr1:161073209-161073210
allele	A/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	chr1:161072059..161074491-chr1:161076266..161079145,2	K562	blood:
2	chr1:161066775..161076749-chr1:161082263..161091955,20	K562	blood:
3	chr1:161068281..161069894-chr1:161072652..161074533,2	MCF-7	breast:
4	chr1:161071868..161073682-chr1:161079939..161081919,2	MCF-7	breast:
5	chr1:161007210..161009859-chr1:161072436..161075359,2	MCF-7	breast:
6	chr1:161070744..161074302-chr1:161079328..161081815,3	K562	blood:
7	chr1:161072066..161073723-chr1:161099587..161102402,2	MCF-7	breast:
8	chr1:161071491..161074470-chr1:161101056..161103371,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215845	Chromatin interaction
ENSG00000158793	Chromatin interaction
ENSG00000158796	Chromatin interaction
ENSG00000270149	Chromatin interaction
ENSG00000143256	Chromatin interaction
ENSG00000162755	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2301288	0.90[EUR][1000 genomes]
rs3813621	0.90[EUR][1000 genomes]
rs41270043	0.90[EUR][1000 genomes]
rs59486558	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550614	1.00[EUR][1000 genomes];1.00[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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161068400-161081800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:161068600-161081200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:161068800-161085200	Weak transcription	Right Atrium	heart
4	chr1:161068800-161085600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:161068800-161087200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:161069000-161073400	Strong transcription	Placenta	Placenta
7	chr1:161069000-161074400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:161069000-161076400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:161069000-161083600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:161069000-161085200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:161069000-161086800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:161069200-161073400	Strong transcription	Primary B cells from cord blood	blood
13	chr1:161069200-161073800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr1:161069200-161074200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:161069200-161074200	Strong transcription	NHEK	skin
16	chr1:161069200-161076800	Strong transcription	K562	blood
17	chr1:161069200-161086400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:161069400-161074200	Strong transcription	Fetal Thymus	thymus
19	chr1:161069400-161074200	Strong transcription	Hela-S3	cervix
20	chr1:161069400-161074600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:161069400-161074600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:161069400-161075000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:161069400-161086400	Weak transcription	Stomach Mucosa	stomach
24	chr1:161071000-161074200	Strong transcription	Brain Hippocampus Middle	brain
25	chr1:161071000-161085000	Weak transcription	Small Intestine	intestine
26	chr1:161071800-161081000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:161072000-161084000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:161072000-161086200	Weak transcription	Fetal Kidney	kidney
29	chr1:161072000-161086400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:161072000-161086400	Weak transcription	Fetal Lung	lung
31	chr1:161072200-161074200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:161072200-161074400	Weak transcription	HMEC	breast
33	chr1:161072200-161075800	Weak transcription	Thymus	Thymus
34	chr1:161072200-161076000	Weak transcription	Colonic Mucosa	Colon
35	chr1:161072200-161078000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr1:161072200-161078600	Weak transcription	HUVEC	blood vessel
37	chr1:161072200-161078600	Weak transcription	NH-A	brain
38	chr1:161072200-161078800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:161072200-161079000	Weak transcription	Left Ventricle	heart
40	chr1:161072200-161079000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:161072200-161079400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr1:161072200-161079400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:161072200-161079400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:161072200-161079400	Weak transcription	Lung	lung
45	chr1:161072200-161079400	Weak transcription	Pancreas	Pancrea
46	chr1:161072200-161079400	Weak transcription	Psoas Muscle	Psoas
47	chr1:161072200-161081000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr1:161072200-161081000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:161072200-161081200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:161072200-161081800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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