Variant report

Variant	rs12135749
Chromosome Location	chr1:214706868-214706869
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	chr1:214697599..214700656-chr1:214706044..214709050,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11120345	1.00[EUR][1000 genomes]
rs11120346	1.00[EUR][1000 genomes]
rs11120347	1.00[EUR][1000 genomes]
rs11120348	1.00[EUR][1000 genomes]
rs11810525	1.00[EUR][1000 genomes]
rs12119039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12121515	1.00[EUR][1000 genomes]
rs12124603	1.00[EUR][1000 genomes]
rs12125611	1.00[EUR][1000 genomes]
rs12126820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12127207	1.00[EUR][1000 genomes]
rs12127340	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12127827	1.00[EUR][1000 genomes]
rs12129205	1.00[AMR][1000 genomes]
rs12129528	0.90[EUR][1000 genomes]
rs12136877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12142620	1.00[EUR][1000 genomes]
rs17023126	1.00[EUR][1000 genomes]
rs56662203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57108161	1.00[EUR][1000 genomes]
rs59160493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60226530	1.00[EUR][1000 genomes]
rs60961360	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6690349	1.00[EUR][1000 genomes]
rs73077971	1.00[EUR][1000 genomes]
rs73077984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73077989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73077995	1.00[EUR][1000 genomes]
rs73079704	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73079729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73079746	1.00[EUR][1000 genomes]
rs73079748	1.00[EUR][1000 genomes]
rs73079754	0.82[EUR][1000 genomes]
rs73079755	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73079759	0.82[EUR][1000 genomes]
rs73079763	0.82[EUR][1000 genomes]
rs73079764	0.82[EUR][1000 genomes]
rs73079768	0.82[EUR][1000 genomes]
rs7539678	1.00[EUR][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	nsv945285	chr1:214705327-214707354	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214688400-214710600	Weak transcription	Spleen	Spleen
2	chr1:214692400-214710600	Weak transcription	HUVEC	blood vessel
3	chr1:214698800-214710800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:214699200-214711400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:214699200-214711600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:214699200-214722000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:214699200-214722400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:214699800-214715200	Weak transcription	Stomach Mucosa	stomach
9	chr1:214700800-214711400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:214701200-214710400	Weak transcription	Adipose Nuclei	Adipose
11	chr1:214701200-214710800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:214701200-214710800	Weak transcription	NH-A	brain
13	chr1:214701200-214719000	Weak transcription	Hela-S3	cervix
14	chr1:214701400-214710600	Weak transcription	NHDF-Ad	bronchial
15	chr1:214701600-214710400	Weak transcription	A549	lung
16	chr1:214702800-214718800	Weak transcription	Aorta	Aorta
17	chr1:214703000-214710600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:214703000-214711600	Weak transcription	Psoas Muscle	Psoas
19	chr1:214703600-214710400	Weak transcription	Small Intestine	intestine
20	chr1:214703800-214711800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:214704000-214707000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:214704200-214711600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:214704800-214707000	Strong transcription	HMEC	breast
24	chr1:214704800-214707000	Strong transcription	NHEK	skin
25	chr1:214705000-214710600	Weak transcription	Fetal Lung	lung
26	chr1:214705200-214707000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:214705200-214710600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:214705400-214707000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:214705600-214707000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:214705600-214710600	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:214705600-214713000	Weak transcription	Fetal Kidney	kidney
32	chr1:214706200-214709600	Weak transcription	Placenta	Placenta
33	chr1:214706400-214710800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:214706400-214710800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:214706600-214708200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:214706600-214710600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:214706600-214710600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:214706600-214710600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:214706600-214710800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:214706600-214710800	Weak transcription	Right Ventricle	heart
41	chr1:214706600-214711400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:214706600-214713600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr1:214706600-214713800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr1:214706600-214714600	Weak transcription	Lung	lung
45	chr1:214706600-214715600	Weak transcription	Esophagus	oesophagus
46	chr1:214706600-214715600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr1:214706600-214715600	Weak transcription	Fetal Muscle Leg	muscle
48	chr1:214706600-214715600	Weak transcription	Left Ventricle	heart
49	chr1:214706600-214715600	Weak transcription	Ovary	ovary
50	chr1:214706600-214720000	Weak transcription	Fetal Intestine Small	intestine

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