Variant report

Variant	rs1447193
Chromosome Location	chr2:30864980-30864981
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	chr2:30864804..30866571-chr2:30870628..30873251,2	MCF-7	breast:
2	chr2:30859615..30861483-chr2:30862535..30865064,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1252625	0.81[ASN][1000 genomes]
rs2593457	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2609951	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609954	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609960	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4952147	0.81[ASN][1000 genomes]
rs6749074	0.87[ASN][1000 genomes]
rs829618	0.81[ASN][1000 genomes]
rs829619	0.81[ASN][1000 genomes]
rs829620	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs829622	0.81[ASN][1000 genomes]
rs829631	0.83[ASN][1000 genomes]
rs829655	0.81[EUR][1000 genomes]
rs829661	0.81[EUR][1000 genomes]
rs829662	0.81[EUR][1000 genomes]
rs829663	0.81[EUR][1000 genomes]
rs844194	0.83[ASN][1000 genomes]
rs9309680	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv581266	chr2:30864789-30874229	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30835800-30871200	Weak transcription	Small Intestine	intestine
2	chr2:30841800-30872200	Weak transcription	Spleen	Spleen
3	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:30850200-30874600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:30850400-30865000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:30850400-30869200	Weak transcription	Gastric	stomach
8	chr2:30850400-30874600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:30851400-30865000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:30851800-30865000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:30853200-30867200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:30853200-30872000	Weak transcription	NHDF-Ad	bronchial
13	chr2:30854000-30867000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:30854200-30867600	Weak transcription	Psoas Muscle	Psoas
15	chr2:30854400-30865000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr2:30854400-30865200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr2:30854400-30866600	Weak transcription	GM12878-XiMat	blood
18	chr2:30855000-30865000	Weak transcription	Fetal Intestine Small	intestine
19	chr2:30855000-30865400	Weak transcription	HSMM	muscle
20	chr2:30855600-30867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:30856400-30866600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:30857000-30869000	Weak transcription	Hela-S3	cervix
23	chr2:30858600-30865400	Strong transcription	Primary T cells from cord blood	blood
24	chr2:30859600-30872000	Weak transcription	Fetal Stomach	stomach
25	chr2:30860200-30865000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:30860200-30866200	Weak transcription	HUVEC	blood vessel
27	chr2:30860400-30878200	Weak transcription	NHLF	lung
28	chr2:30861400-30876800	Weak transcription	Fetal Heart	heart
29	chr2:30861600-30865200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:30861600-30872200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:30862000-30868600	Weak transcription	Brain Substantia Nigra	brain
32	chr2:30862200-30865200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:30862400-30866800	Weak transcription	HMEC	breast
34	chr2:30862400-30868400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:30862600-30865000	Weak transcription	Fetal Kidney	kidney
36	chr2:30862600-30865200	Strong transcription	Primary hematopoietic stem cells	blood
37	chr2:30862800-30865200	Strong transcription	Dnd41	blood
38	chr2:30862800-30865600	Strong transcription	Fetal Lung	lung
39	chr2:30863000-30865200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:30863000-30865200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:30863000-30865200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:30863000-30865200	Strong transcription	A549	lung
43	chr2:30863000-30865400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:30863000-30866000	Weak transcription	Adipose Nuclei	Adipose
45	chr2:30863200-30865000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:30863200-30865000	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:30863200-30871800	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:30863400-30865600	Weak transcription	Esophagus	oesophagus
49	chr2:30863400-30866800	Weak transcription	Pancreas	Pancrea
50	chr2:30863600-30866600	Weak transcription	Fetal Intestine Large	intestine

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