Variant report

Variant	rs4848908
Chromosome Location	chr2:112723117-112723118
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	chr2:112722424..112724724-chr2:112728880..112730730,2	K562	blood:
2	chr2:112659159..112661147-chr2:112720717..112723278,2	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10166564	0.86[CHD][hapmap];0.94[JPT][hapmap]
rs10173553	0.94[JPT][hapmap]
rs10180345	0.86[CHD][hapmap];0.94[JPT][hapmap]
rs10186291	0.86[CHD][hapmap];0.94[JPT][hapmap]
rs10199616	0.94[JPT][hapmap]
rs10207820	0.86[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs10210692	0.86[CHD][hapmap];0.94[JPT][hapmap]
rs11123024	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11123073	0.86[CHD][hapmap];0.94[JPT][hapmap]
rs1113418	0.82[ASN][1000 genomes]
rs11673958	0.82[ASN][1000 genomes]
rs11676037	0.94[JPT][hapmap]
rs11683409	0.86[CHD][hapmap];0.94[JPT][hapmap]
rs11683421	0.86[CHD][hapmap];0.94[JPT][hapmap]
rs11683819	0.88[JPT][hapmap]
rs11887259	0.88[JPT][hapmap]
rs13385764	0.94[JPT][hapmap]
rs13386914	0.82[ASN][1000 genomes]
rs13394651	0.86[CHD][hapmap];0.94[JPT][hapmap]
rs1400322	0.80[CHD][hapmap]
rs1516627	0.86[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs1516628	0.94[JPT][hapmap]
rs1516640	0.80[CHD][hapmap]
rs1554214	0.86[CHD][hapmap];0.94[JPT][hapmap]
rs1554215	0.94[JPT][hapmap]
rs1607059	0.94[JPT][hapmap]
rs17042094	0.83[ASN][1000 genomes]
rs17042095	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs1996325	0.86[CHD][hapmap];0.94[JPT][hapmap]
rs1996326	0.86[CHD][hapmap];0.94[JPT][hapmap]
rs1996327	0.94[JPT][hapmap]
rs1996328	0.86[CHD][hapmap];0.94[JPT][hapmap]
rs1996329	0.94[JPT][hapmap]
rs2871922	0.86[CHD][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs34648366	0.82[ASN][1000 genomes]
rs35776963	0.80[ASN][1000 genomes]
rs3761700	0.83[CHD][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs3761701	0.86[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs3811636	0.94[JPT][hapmap]
rs3811638	0.88[JPT][hapmap]
rs4303721	0.94[JPT][hapmap]
rs4353657	0.86[CHD][hapmap];0.94[JPT][hapmap]
rs4374383	0.94[JPT][hapmap]
rs4468823	0.86[CHD][hapmap];0.94[JPT][hapmap]
rs4500955	0.94[JPT][hapmap]
rs4519530	0.94[JPT][hapmap]
rs4525701	0.83[AFR][1000 genomes]
rs4627569	0.88[JPT][hapmap]
rs4632346	0.82[ASN][1000 genomes]
rs4848901	0.83[CHD][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs4848923	0.94[JPT][hapmap]
rs4848933	0.88[JPT][hapmap]
rs56097129	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56822761	0.82[ASN][1000 genomes]
rs59219838	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62162478	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62162480	0.91[ASN][1000 genomes]
rs6541971	0.86[CHD][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs6541998	0.88[JPT][hapmap]
rs6710591	0.88[JPT][hapmap]
rs6711146	0.88[JPT][hapmap]
rs6711987	0.83[CHD][hapmap];0.94[JPT][hapmap]
rs6726639	0.86[CHD][hapmap];0.94[JPT][hapmap]
rs6739294	0.86[CHD][hapmap];0.94[JPT][hapmap]
rs6742470	0.80[ASN][1000 genomes]
rs7564225	0.94[JPT][hapmap]
rs7569614	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7571009	0.94[JPT][hapmap]
rs7571120	0.94[JPT][hapmap]
rs7579906	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs7580261	0.96[TSI][hapmap]
rs7601798	0.81[ASN][1000 genomes]
rs7604639	0.86[CHD][hapmap];0.94[JPT][hapmap]
rs870762	0.94[JPT][hapmap]
rs884448	0.83[CHD][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs908518	0.83[CHD][hapmap];0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1801950	chr2:111899783-112746937	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv2757825	chr2:111899783-112746937	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv2759083	chr2:111899783-112746937	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
7	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv998028	chr2:112649472-112734015	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv582701	chr2:112649472-112740597	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv526647	chr2:112651316-112738562	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv582702	chr2:112651316-112738562	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	esv3333591	chr2:112669320-112892618	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv1002027	chr2:112679182-112861534	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv999746	chr2:112691270-112796083	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv1003129	chr2:112691270-112816694	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
18	esv2760607	chr2:112691282-112803423	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv431491	chr2:112699350-112793981	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv515698	chr2:112699350-112795908	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4848908	RGPD4///RGPD5///RGPD6///RGPD8	N/A	lymphoblastoid	RTeQTL
rs4848908	IL1RN	cis	parietal	SCAN
rs4848908	LOC653596	cis	multi-tissue	Pritchard

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112689200-112734400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:112705600-112724600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:112705600-112730000	Weak transcription	Brain Angular Gyrus	brain
4	chr2:112705800-112724400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:112705800-112726600	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:112705800-112741000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:112706600-112724400	Weak transcription	Gastric	stomach
8	chr2:112706800-112725400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:112707000-112724400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:112707400-112725800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:112712800-112724400	Weak transcription	Fetal Stomach	stomach
12	chr2:112713000-112724600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:112713200-112730600	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:112713200-112790600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:112716000-112725200	Weak transcription	Ovary	ovary
16	chr2:112716200-112724400	Weak transcription	Aorta	Aorta
17	chr2:112716800-112730200	Weak transcription	Adipose Nuclei	Adipose
18	chr2:112716800-112741000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:112716800-112741000	Weak transcription	Small Intestine	intestine
20	chr2:112717000-112733600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:112717000-112740400	Weak transcription	Brain Substantia Nigra	brain
22	chr2:112717200-112725600	Weak transcription	Esophagus	oesophagus
23	chr2:112718400-112776400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:112719400-112724400	Weak transcription	Placenta	Placenta
25	chr2:112721000-112726000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:112721000-112726800	Weak transcription	K562	blood
27	chr2:112721000-112744200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:112721400-112723200	Genic enhancers	HepG2	liver
29	chr2:112721400-112724200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:112721400-112735000	Weak transcription	Fetal Lung	lung
31	chr2:112721600-112732000	Weak transcription	Fetal Intestine Large	intestine
32	chr2:112721800-112724600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:112722400-112724200	Enhancers	HUVEC	blood vessel
34	chr2:112722400-112726600	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:112722400-112727000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:112722400-112727400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:112722600-112723400	Strong transcription	Fetal Intestine Small	intestine
38	chr2:112722600-112723600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:112722600-112723600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr2:112722600-112723800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr2:112722600-112724600	Strong transcription	Fetal Kidney	kidney
42	chr2:112722600-112727200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:112722600-112728000	Strong transcription	Liver	Liver
44	chr2:112722800-112723400	Enhancers	Fetal Muscle Trunk	muscle
45	chr2:112722800-112723400	Genic enhancers	Left Ventricle	heart
46	chr2:112722800-112723400	Enhancers	Pancreas	Pancrea
47	chr2:112722800-112723400	Enhancers	Right Ventricle	heart
48	chr2:112722800-112723400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr2:112722800-112723400	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr2:112722800-112723600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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