Variant report

Variant	rs2303130
Chromosome Location	chr5:90669771-90669772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:90669432-90669771	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr5:90669339-90670205	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr5:90662204-90681025	K562	blood:	n/a	n/a
4	POLR2A	chr5:90669395-90669790	HCT-116	colon:	n/a	n/a
5	POLR2A	chr5:90668672-90671145	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr5:90661633-90680586	U87	brain:	n/a	n/a
7	POLR2A	chr5:90661706-90680586	U87	brain:	n/a	n/a
8	POLR2A	chr5:90662941-90671641	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr5:90668447-90669777	K562	blood:	n/a	n/a
10	POLR2A	chr5:90669099-90670175	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr5:90669338-90670184	K562	blood:	n/a	n/a
12	POLR2A	chr5:90661114-90672065	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90609791..90613058-chr5:90669226..90672505,3	MCF-7	breast:

Variant related genes	Relation type
ARRDC3	TF binding region
ENSG00000271762	Chromatin interaction
ENSG00000248323	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10514347	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10514348	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10805875	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1133120	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16869743	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16869748	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16869750	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16876866	0.81[EUR][1000 genomes]
rs16878935	0.88[CEU][hapmap]
rs1807945	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2287875	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4146346	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56752631	0.81[EUR][1000 genomes]
rs73771404	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73771421	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73771425	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73773371	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73773374	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73773378	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9918274	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90653400-90670400	Weak transcription	Right Atrium	heart
2	chr5:90662400-90673000	Strong transcription	Fetal Intestine Large	intestine
3	chr5:90662800-90672400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:90663000-90670400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:90663000-90671600	Strong transcription	Fetal Muscle Leg	muscle
6	chr5:90663000-90672400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:90663000-90672400	Strong transcription	Muscle Satellite Cultured Cells	--
8	chr5:90663000-90672800	Strong transcription	Adipose Nuclei	Adipose
9	chr5:90663000-90673400	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:90663000-90673600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:90663000-90674200	Strong transcription	NH-A	brain
12	chr5:90663000-90674400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:90663000-90674400	Strong transcription	Placenta	Placenta
14	chr5:90663000-90674400	Strong transcription	Fetal Thymus	thymus
15	chr5:90663000-90674600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:90663200-90671200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:90663200-90671200	Strong transcription	NHLF	lung
18	chr5:90663200-90671400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:90663200-90671400	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:90663200-90671600	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:90663200-90672400	Strong transcription	Osteobl	bone
22	chr5:90663200-90672600	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr5:90663200-90673000	Strong transcription	Primary B cells from cord blood	blood
24	chr5:90663200-90673000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr5:90663200-90673800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr5:90663200-90674000	Strong transcription	Duodenum Mucosa	Duodenum
27	chr5:90663400-90670400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:90663400-90673200	Strong transcription	Primary hematopoietic stem cells	blood
29	chr5:90663400-90673800	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr5:90663400-90674000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:90663400-90674400	Strong transcription	Primary B cells from peripheral blood	blood
32	chr5:90663400-90674400	Strong transcription	HSMM	muscle
33	chr5:90663600-90672600	Strong transcription	HSMMtube	muscle
34	chr5:90663800-90673000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:90663800-90673000	Strong transcription	HMEC	breast
36	chr5:90663800-90673400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:90663800-90674200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr5:90663800-90674400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr5:90663800-90674400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr5:90663800-90674600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr5:90664000-90670400	Strong transcription	Left Ventricle	heart
42	chr5:90664000-90671000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:90664000-90673600	Strong transcription	K562	blood
44	chr5:90664000-90673800	Strong transcription	Dnd41	blood
45	chr5:90664000-90673800	Strong transcription	GM12878-XiMat	blood
46	chr5:90664400-90670200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:90664400-90670400	Weak transcription	Fetal Intestine Small	intestine
48	chr5:90664400-90671600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr5:90664600-90673800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr5:90665000-90670800	Strong transcription	Primary T cells from cord blood	blood

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