Variant report

Variant	rs6707969
Chromosome Location	chr2:174105869-174105870
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:174102278..174104056-chr2:174104733..174106603,2	K562	blood:
2	chr2:174104088..174106166-chr2:174113223..174115189,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11685001	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs13001439	0.86[EUR][1000 genomes]
rs2028382	0.81[CEU][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs28556935	0.86[EUR][1000 genomes]
rs56003241	0.92[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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6707969	SEPP1	trans	lymphoblastoid	seeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
2	chr2:174083400-174136400	Weak transcription	Esophagus	oesophagus
3	chr2:174083800-174119200	Weak transcription	HMEC	breast
4	chr2:174092200-174109400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:174092800-174109200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:174093800-174106800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:174094800-174114600	Weak transcription	HUVEC	blood vessel
8	chr2:174096000-174128800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:174096200-174118200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:174096400-174107000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:174096400-174109200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:174096400-174112600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:174096600-174110800	Weak transcription	Small Intestine	intestine
14	chr2:174096600-174128800	Weak transcription	Pancreas	Pancrea
15	chr2:174096600-174130800	Weak transcription	Gastric	stomach
16	chr2:174096800-174108200	Weak transcription	Fetal Heart	heart
17	chr2:174096800-174108400	Strong transcription	Adipose Nuclei	Adipose
18	chr2:174097600-174106400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:174098000-174106800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:174098000-174109000	Weak transcription	Primary B cells from cord blood	blood
21	chr2:174098000-174128800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:174098000-174130600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:174098200-174124000	Weak transcription	NH-A	brain
24	chr2:174098400-174125600	Weak transcription	Right Ventricle	heart
25	chr2:174098800-174106000	Weak transcription	Aorta	Aorta
26	chr2:174098800-174124000	Weak transcription	Dnd41	blood
27	chr2:174099000-174124000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:174099400-174123600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:174099600-174106200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:174099600-174120200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:174099600-174123400	Weak transcription	A549	lung
32	chr2:174099600-174134400	Weak transcription	Placenta	Placenta
33	chr2:174100200-174109600	Weak transcription	Fetal Brain Male	brain
34	chr2:174100400-174123400	Weak transcription	NHDF-Ad	bronchial
35	chr2:174100800-174113400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:174101600-174106400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:174101600-174107000	Strong transcription	Ovary	ovary
38	chr2:174101600-174109600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:174101600-174114000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:174101600-174119400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:174101600-174136400	Weak transcription	Hela-S3	cervix
42	chr2:174101800-174106200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:174101800-174106200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:174101800-174106400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:174101800-174106600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:174101800-174109600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr2:174101800-174136200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:174102400-174106200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:174102400-174106400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:174102400-174115400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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