Variant report

Variant	rs11903915
Chromosome Location	chr2:112946075-112946076
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:112941329..112944537-chr2:112945158..112947736,3	K562	blood:
2	chr2:112945476..112947826-chr2:112951258..112953580,3	MCF-7	breast:
3	chr2:112940652..112943240-chr2:112945520..112948654,3	K562	blood:
4	chr2:112944701..112946678-chr2:112951279..112953593,2	K562	blood:
5	chr2:112944016..112946935-chr2:113032135..113034643,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBLN7-2	chr2:112945941-112948212	NONHSAT073684

No data

Variant related genes	Relation type
ENSG00000188177	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11123130	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676628	1.00[ASN][1000 genomes]
rs11691239	1.00[ASN][1000 genomes]
rs12711736	0.89[ASN][1000 genomes]
rs4848281	0.89[ASN][1000 genomes]
rs4849051	0.89[ASN][1000 genomes]
rs6708607	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761440	1.00[ASN][1000 genomes]
rs72831633	1.00[ASN][1000 genomes]
rs72831634	1.00[ASN][1000 genomes]
rs72831636	1.00[ASN][1000 genomes]
rs72831638	1.00[ASN][1000 genomes]
rs72831641	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv874866	chr2:112906599-112991098	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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	5 gene(s)	inside rSNPs	diseases
6	nsv582703	chr2:112920219-113100014	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv874867	chr2:112930064-113038409	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs11903915	RGPD8	cis	lung	GTEx
rs11903915	RGPD5///RGPD6///RGPD8	N/A	lymphoblastoid	RTeQTL
rs11903915	RGPD8	cis	Artery Tibial	GTEx
rs11903915	RGPD4///RGPD5///RGPD6///RGPD8	N/A	lymphoblastoid	RTeQTL
rs11903915	RGPD8	cis	Nerve Tibial	GTEx
rs11903915	RGPD8	cis	Esophagus Mucosa	GTEx
rs11903915	RGPD8	cis	Adipose Subcutaneous	GTEx
rs11903915	RGPD8	cis	Artery Aorta	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112914600-112972800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:112939600-112946400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:112939600-112946600	Weak transcription	Gastric	stomach
4	chr2:112940400-112946400	Weak transcription	Right Ventricle	heart
5	chr2:112943200-112952200	Weak transcription	Fetal Lung	lung
6	chr2:112943400-112948200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr2:112944800-112946600	Enhancers	Primary B cells from peripheral blood	blood
8	chr2:112944800-112946600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:112944800-112946800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr2:112944800-112947000	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr2:112945000-112946200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:112945000-112946200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr2:112945000-112946200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr2:112945000-112946200	Enhancers	Dnd41	blood
15	chr2:112945200-112946200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr2:112945200-112946400	Enhancers	Primary hematopoietic stem cells	blood
17	chr2:112945200-112946600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:112945200-112946800	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr2:112945200-112947000	Enhancers	Fetal Thymus	thymus
20	chr2:112945200-112970600	Weak transcription	Fetal Stomach	stomach
21	chr2:112945400-112946200	Enhancers	HMEC	breast
22	chr2:112945400-112946200	Enhancers	NHEK	skin
23	chr2:112945400-112946400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:112945400-112947000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:112945600-112946200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:112945600-112946200	Flanking Active TSS	Thymus	Thymus
27	chr2:112945600-112946600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr2:112945600-112948600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:112945800-112946200	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr2:112945800-112946200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr2:112945800-112951600	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:112946000-112946400	Enhancers	K562	blood
33	chr2:112946000-112946800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:112946000-112947000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:112946000-112947000	Enhancers	HUVEC	blood vessel
36	chr2:112946000-112947200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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