Variant report

Variant	rs7422272
Chromosome Location	chr2:234268308-234268309
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234262927..234266874-chr2:234267273..234270022,5	MCF-7	breast:
2	chr2:234262086..234263728-chr2:234268107..234269688,2	MCF-7	breast:
3	chr2:234261747..234266752-chr2:234267799..234270221,5	K562	blood:
4	chr2:234261499..234266840-chr2:234267799..234272402,9	K562	blood:
5	chr2:234266865..234268565-chr2:234269887..234272310,2	K562	blood:

Variant related genes	Relation type
ENSG00000243637	Chromatin interaction
ENSG00000259793	Chromatin interaction
ENSG00000077044	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs2971868	0.92[CEU][hapmap];0.88[GIH][hapmap]
rs34339006	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4663540	0.91[ASW][hapmap];1.00[CEU][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.86[MKK][hapmap];0.91[TSI][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs838707	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs838710	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs838713	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs838714	0.96[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs838715	0.96[CEU][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs838718	0.84[CHD][hapmap]
rs838719	0.88[CEU][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs838720	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs838722	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs838730	0.92[CEU][hapmap];0.94[GIH][hapmap]
rs838731	0.91[CEU][hapmap];0.94[GIH][hapmap]
rs838732	0.91[CEU][hapmap];0.91[GIH][hapmap]
rs838733	0.92[CEU][hapmap];0.90[GIH][hapmap]
rs838734	0.92[CEU][hapmap]
rs838735	0.91[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1002075	chr2:234225979-234277508	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv460135	chr2:234242347-234288048	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv584701	chr2:234242347-234288048	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv460136	chr2:234244395-234288048	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv584702	chr2:234244395-234288048	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv1820563	chr2:234263212-234282210	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7422272	DGKD	Cis_1M	lymphoblastoid	RTeQTL
rs7422272	DGKD	cis	cerebellum	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234263800-234268400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr2:234263800-234268400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr2:234264400-234268800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:234264400-234268800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:234264400-234269000	Weak transcription	NHLF	lung
6	chr2:234264400-234269600	Weak transcription	Aorta	Aorta
7	chr2:234264400-234274800	Weak transcription	NHDF-Ad	bronchial
8	chr2:234264400-234287200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:234264600-234272400	Weak transcription	HUVEC	blood vessel
10	chr2:234264600-234290800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:234264600-234307600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:234264800-234268400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:234264800-234268600	Weak transcription	K562	blood
14	chr2:234264800-234269000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:234264800-234269200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:234264800-234271400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:234264800-234272200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:234264800-234289200	Weak transcription	Esophagus	oesophagus
19	chr2:234264800-234292800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:234265000-234268600	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr2:234265000-234272200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:234265000-234283800	Weak transcription	Thymus	Thymus
23	chr2:234265000-234295000	Weak transcription	Osteobl	bone
24	chr2:234265200-234269600	Weak transcription	Fetal Intestine Small	intestine
25	chr2:234265200-234269800	Weak transcription	Brain Angular Gyrus	brain
26	chr2:234265200-234269800	Weak transcription	Psoas Muscle	Psoas
27	chr2:234265200-234284000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:234265200-234295000	Weak transcription	NH-A	brain
29	chr2:234265400-234281600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:234265600-234269200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:234265800-234269200	Weak transcription	Fetal Heart	heart
32	chr2:234265800-234270200	Weak transcription	NHEK	skin
33	chr2:234265800-234272200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:234265800-234272200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr2:234265800-234272200	Weak transcription	Fetal Lung	lung
36	chr2:234265800-234272400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr2:234265800-234272400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:234265800-234278200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:234265800-234278200	Weak transcription	Brain Germinal Matrix	brain
40	chr2:234265800-234283800	Weak transcription	Colonic Mucosa	Colon
41	chr2:234265800-234289400	Weak transcription	Hela-S3	cervix
42	chr2:234265800-234293000	Weak transcription	HMEC	breast
43	chr2:234266000-234268600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:234266000-234268600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:234266000-234268600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:234266000-234268600	Weak transcription	Left Ventricle	heart
47	chr2:234266000-234268600	Weak transcription	Right Atrium	heart
48	chr2:234266000-234268800	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr2:234266000-234269000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr2:234266000-234269000	Weak transcription	Fetal Muscle Trunk	muscle

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