Variant report

Variant	rs2937
Chromosome Location	chr2:48704891-48704892
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	chr2:48698342..48700177-chr2:48704128..48705717,2	K562	blood:

Variant related genes	Relation type
ENSG00000162869	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10195717	0.89[CEU][hapmap]
rs11674217	1.00[CEU][hapmap]
rs11675947	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11677205	0.88[CEU][hapmap]
rs11678934	1.00[CEU][hapmap]
rs11679685	0.87[AMR][1000 genomes]
rs11683202	0.88[CEU][hapmap]
rs11683444	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11687461	0.90[CEU][hapmap]
rs11687498	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11687771	1.00[CEU][hapmap];0.91[AMR][1000 genomes]
rs11689285	1.00[CEU][hapmap];0.83[YRI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11689288	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11690526	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11692537	1.00[CEU][hapmap]
rs11693784	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13398456	0.90[CEU][hapmap]
rs17397449	0.88[CEU][hapmap]
rs34026270	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34542838	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4364065	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2937	CCDC128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48673200-48724000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:48680000-48706200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:48682600-48716200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:48687600-48707200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:48689200-48735600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:48690000-48735600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:48694000-48729400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:48694200-48753000	Weak transcription	Psoas Muscle	Psoas
9	chr2:48694400-48706600	Weak transcription	Fetal Brain Male	brain
10	chr2:48694800-48706000	Weak transcription	Small Intestine	intestine
11	chr2:48695000-48707600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:48695200-48706000	Weak transcription	Stomach Mucosa	stomach
13	chr2:48695200-48707200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:48695200-48707400	Weak transcription	Spleen	Spleen
15	chr2:48695200-48709800	Weak transcription	NHLF	lung
16	chr2:48695200-48723800	Weak transcription	Gastric	stomach
17	chr2:48695200-48725800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:48695200-48728000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:48695400-48706400	Weak transcription	HepG2	liver
20	chr2:48695400-48706800	Weak transcription	Brain Germinal Matrix	brain
21	chr2:48695400-48706800	Weak transcription	HMEC	breast
22	chr2:48695400-48707000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:48695400-48709200	Weak transcription	HUVEC	blood vessel
24	chr2:48695400-48728000	Weak transcription	Hela-S3	cervix
25	chr2:48695600-48713400	Weak transcription	Colonic Mucosa	Colon
26	chr2:48695600-48735200	Weak transcription	K562	blood
27	chr2:48696200-48705200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:48696200-48706800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:48696200-48707200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:48696200-48721000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:48696400-48705000	Weak transcription	Esophagus	oesophagus
32	chr2:48696400-48705200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:48696400-48705200	Weak transcription	Fetal Brain Female	brain
34	chr2:48696400-48707000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:48696400-48708000	Weak transcription	Pancreas	Pancrea
36	chr2:48696400-48710000	Weak transcription	Lung	lung
37	chr2:48696400-48716400	Weak transcription	Right Ventricle	heart
38	chr2:48696400-48721600	Weak transcription	Left Ventricle	heart
39	chr2:48696400-48723800	Weak transcription	Aorta	Aorta
40	chr2:48697200-48707200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:48698600-48706200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr2:48698600-48723200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:48698800-48705000	Weak transcription	Dnd41	blood
44	chr2:48698800-48705200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:48698800-48706400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:48698800-48706600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:48698800-48706800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:48698800-48707000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:48698800-48710600	Weak transcription	NHEK	skin
50	chr2:48698800-48711000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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