Variant report

Variant	rs12134488
Chromosome Location	chr1:161084308-161084309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr1:161083754-161085744	K562	blood:	n/a	n/a
2	CEBPB	chr1:161084271-161084596	IMR90	lung:	n/a	n/a
3	SPI1	chr1:161084180-161084343	K562	blood:	n/a	n/a
4	STAT3	chr1:161084300-161084359	MCF10A-Er-Src	breast:	n/a	n/a
5	SPI1	chr1:161084009-161084511	HL-60	blood:	n/a	n/a
6	POLR2A	chr1:161084155-161084573	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161067105..161072149-chr1:161083038..161089689,9	MCF-7	breast:
2	chr1:161066775..161076749-chr1:161082263..161091955,20	K562	blood:
3	chr1:161068416..161069918-chr1:161082407..161084379,2	K562	blood:
4	chr1:161014942..161020484-chr1:161081169..161085203,6	K562	blood:
5	chr1:161070211..161073021-chr1:161084207..161086121,2	K562	blood:
6	chr1:161081032..161084395-chr1:161141583..161144335,3	K562	blood:

No data

Variant related genes	Relation type
NIT1	TF binding region
ENSG00000162755	Chromatin interaction
ENSG00000158773	Chromatin interaction
ENSG00000158850	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11265559	1.00[LWK][hapmap]
rs1127571	1.00[LWK][hapmap]
rs12030747	1.00[LWK][hapmap]

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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161068800-161085200	Weak transcription	Right Atrium	heart
2	chr1:161068800-161085600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:161068800-161087200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:161069000-161085200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:161069000-161086800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:161069200-161086400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:161069400-161086400	Weak transcription	Stomach Mucosa	stomach
8	chr1:161071000-161085000	Weak transcription	Small Intestine	intestine
9	chr1:161072000-161086200	Weak transcription	Fetal Kidney	kidney
10	chr1:161072000-161086400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:161072000-161086400	Weak transcription	Fetal Lung	lung
12	chr1:161072200-161085200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:161072200-161085200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:161072200-161085200	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:161072200-161085200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:161072200-161085200	Weak transcription	Right Ventricle	heart
17	chr1:161072200-161085200	Weak transcription	NHDF-Ad	bronchial
18	chr1:161072200-161086000	Weak transcription	Ovary	ovary
19	chr1:161072200-161086200	Weak transcription	Aorta	Aorta
20	chr1:161072200-161086400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:161072200-161086400	Weak transcription	Fetal Brain Male	brain
22	chr1:161072200-161086400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:161072200-161086800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:161072200-161087000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:161072200-161087000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:161072400-161084600	Weak transcription	Osteobl	bone
27	chr1:161072400-161085000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:161072400-161085200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:161072400-161085600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:161072400-161086200	Weak transcription	Fetal Brain Female	brain
31	chr1:161072400-161086400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:161072400-161086400	Weak transcription	Fetal Intestine Large	intestine
33	chr1:161072400-161086400	Weak transcription	HSMMtube	muscle
34	chr1:161072400-161086800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:161072600-161085200	Weak transcription	Brain Germinal Matrix	brain
36	chr1:161073000-161085200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:161073000-161085200	Weak transcription	NHLF	lung
38	chr1:161073000-161085800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:161073000-161086400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:161073400-161085600	Weak transcription	Placenta	Placenta
41	chr1:161074600-161085000	Weak transcription	Esophagus	oesophagus
42	chr1:161075000-161084600	Weak transcription	HMEC	breast
43	chr1:161077600-161085600	Weak transcription	Fetal Thymus	thymus
44	chr1:161079600-161085600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:161079600-161085800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:161079800-161086000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:161079800-161086400	Weak transcription	Thymus	Thymus
48	chr1:161080000-161085000	Weak transcription	Fetal Intestine Small	intestine
49	chr1:161080000-161085000	Weak transcription	Spleen	Spleen
50	chr1:161080000-161085600	Weak transcription	Fetal Muscle Leg	muscle

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