Variant report

Variant	rs1324214
Chromosome Location	chr1:94997288-94997289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94997172..94998108-chr1:95064305..95065624,5	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1023058	0.88[CHB][hapmap]
rs12094329	0.94[CEU][hapmap];0.88[CHB][hapmap];0.95[GIH][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs12750904	0.88[CHB][hapmap]
rs1415758	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3917633	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148045	0.94[CEU][hapmap];0.88[CHB][hapmap];0.91[GIH][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]
rs4148046	0.88[CHB][hapmap]
rs4148051	0.88[CHB][hapmap]
rs6656819	0.88[CHB][hapmap]
rs6660167	0.88[CHB][hapmap]
rs724829	0.88[CHB][hapmap]
rs762484	0.84[CEU][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][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	nsv871764	chr1:94917402-95004084	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94917800-95000800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:94923800-95000400	Weak transcription	Aorta	Aorta
3	chr1:94956200-95004000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:94958600-95004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:94965600-95000400	Weak transcription	Small Intestine	intestine
6	chr1:94965600-95006400	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:94969200-95000400	Weak transcription	Colonic Mucosa	Colon
8	chr1:94970400-95003800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:94971000-94999800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:94972200-95004400	Weak transcription	A549	lung
11	chr1:94979200-95005000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:94985200-95001200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:94986000-95006200	Weak transcription	Liver	Liver
14	chr1:94988800-95000000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:94991600-95004000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:94993000-94998000	Weak transcription	Osteobl	bone
17	chr1:94993400-95001000	Weak transcription	Brain Anterior Caudate	brain
18	chr1:94993600-95001800	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:94993600-95002400	Weak transcription	Stomach Mucosa	stomach
20	chr1:94993600-95002800	Weak transcription	Fetal Brain Male	brain
21	chr1:94993600-95004800	Weak transcription	HSMMtube	muscle
22	chr1:94994000-94997600	Weak transcription	Fetal Kidney	kidney
23	chr1:94994000-94998600	Strong transcription	NHLF	lung
24	chr1:94994000-95000400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:94994000-95001200	Strong transcription	NH-A	brain
26	chr1:94994000-95002200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:94994000-95003600	Weak transcription	Brain Germinal Matrix	brain
28	chr1:94994000-95003800	Weak transcription	Brain Substantia Nigra	brain
29	chr1:94994200-94997800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:94994200-94998600	Strong transcription	Fetal Intestine Small	intestine
31	chr1:94994200-95002000	Strong transcription	Fetal Intestine Large	intestine
32	chr1:94994200-95002800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:94994400-94999200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:94994400-95000200	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr1:94994400-95005400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr1:94994600-94997800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr1:94994600-94997800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:94994600-95002400	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:94994600-95003800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:94994600-95005200	Weak transcription	Esophagus	oesophagus
41	chr1:94994600-95006200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:94994800-95001600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:94994800-95002400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:94995000-94999000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:94995000-95000200	Strong transcription	Adipose Nuclei	Adipose
46	chr1:94995000-95002000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr1:94995000-95002200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:94995200-94998800	Strong transcription	Placenta	Placenta
49	chr1:94995200-95002000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:94995200-95006200	Weak transcription	Spleen	Spleen

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