Variant report

Variant	rs2698315
Chromosome Location	chr3:98305373-98305374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:98303079..98305719-chr3:98311231..98314146,3	K562	blood:
2	chr3:97689639..97691921-chr3:98303800..98305616,2	K562	blood:
3	chr3:98303079..98306972-chr3:98311108..98314146,5	K562	blood:

Variant related genes	Relation type
ENSG00000080819	Chromatin interaction
ENSG00000170854	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10222524	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1350792	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1350793	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1381090	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1675526	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1675527	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1675528	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1675531	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1729978	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1729980	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1729995	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34330560	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3762654	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3853723	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4558798	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv528056	chr3:98101101-98317836	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv520503	chr3:98102801-98317836	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv834775	chr3:98170059-98367552	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3390386	chr3:98174549-98579953	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv997484	chr3:98284283-98371420	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1000357	chr3:98284283-98381473	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv536661	chr3:98286588-98315764	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98287200-98310200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr3:98287400-98310400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr3:98290400-98307600	Weak transcription	Psoas Muscle	Psoas
4	chr3:98292400-98307400	Weak transcription	Fetal Kidney	kidney
5	chr3:98292400-98307600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:98292400-98310400	Weak transcription	Small Intestine	intestine
7	chr3:98292400-98311000	Weak transcription	Fetal Brain Male	brain
8	chr3:98292600-98310200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:98293000-98311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:98293200-98310400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:98294400-98310400	Weak transcription	Colonic Mucosa	Colon
12	chr3:98294400-98311000	Weak transcription	Stomach Mucosa	stomach
13	chr3:98294600-98308200	Weak transcription	Colon Smooth Muscle	Colon
14	chr3:98294800-98308200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:98294800-98311000	Weak transcription	Esophagus	oesophagus
16	chr3:98295000-98305800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr3:98295000-98308000	Weak transcription	Brain Germinal Matrix	brain
18	chr3:98295200-98308200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr3:98295400-98307200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr3:98295600-98309800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr3:98296000-98310200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr3:98296200-98310400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:98296400-98308600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:98296400-98310000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr3:98296600-98311200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:98296800-98309600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr3:98296800-98310800	Weak transcription	NHLF	lung
28	chr3:98297000-98309600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:98297400-98310400	Weak transcription	Hela-S3	cervix
30	chr3:98298200-98310800	Weak transcription	HUVEC	blood vessel
31	chr3:98298600-98307200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr3:98299600-98308200	Weak transcription	Primary B cells from cord blood	blood
33	chr3:98299600-98309000	Weak transcription	Lung	lung
34	chr3:98299600-98311200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr3:98300000-98308600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr3:98300000-98311200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr3:98300400-98307600	Weak transcription	Ovary	ovary
38	chr3:98300600-98307400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr3:98301600-98306800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:98301600-98307800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr3:98301800-98305400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr3:98301800-98310000	Strong transcription	Liver	Liver
43	chr3:98302000-98309800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:98302200-98305400	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:98302400-98305400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr3:98302400-98305400	Strong transcription	Primary hematopoietic stem cells	blood
47	chr3:98302400-98306600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:98302400-98307200	Strong transcription	Primary T cells from cord blood	blood
49	chr3:98302400-98310000	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr3:98302400-98310200	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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