Variant report

Variant	rs17013059
Chromosome Location	chr2:33700486-33700487
allele	A/G
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	RELA	chr2:33700211-33702190	GM18526	blood:	n/a	n/a
2	EBF1	chr2:33700388-33701978	GM12878	blood:	n/a	chr2:33700576-33700587
3	FOXM1	chr2:33700303-33702187	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:33700152-33705186	GM19099	blood:	n/a	n/a
5	RUNX3	chr2:33700458-33702025	GM12878	blood:	n/a	n/a
6	MXI1	chr2:33700396-33702267	IMR90	lung:	n/a	n/a
7	TCF12	chr2:33700481-33702031	A549	lung:	n/a	n/a
8	RELA	chr2:33700355-33702099	GM19099	blood:	n/a	n/a
9	RELA	chr2:33700429-33705116	GM18505	blood:	n/a	n/a
10	RELA	chr2:33700209-33705022	GM10847	blood:	n/a	n/a
11	MTA3	chr2:33700107-33705192	GM12878	blood:	n/a	n/a
12	PML	chr2:33700257-33705210	GM12878	blood:	n/a	n/a
13	RUNX3	chr2:33700294-33702198	GM12878	blood:	n/a	n/a
14	RAD21	chr2:33700376-33702154	SK-N-SH	brain:	n/a	n/a
15	NFIC	chr2:33700371-33702209	GM12878	blood:	n/a	n/a
16	CTCF	chr2:33700486-33702089	SK-N-SH	brain:	n/a	chr2:33701309-33701317
17	POLR2A	chr2:33700467-33705188	GM12878	blood:	n/a	n/a
18	BCLAF1	chr2:33700472-33702155	GM12878	blood:	n/a	chr2:33701471-33701478
19	RELA	chr2:33700401-33702168	GM12878	blood:	n/a	n/a
20	RFX5	chr2:33700470-33701794	GM12878	blood:	n/a	n/a
21	BCLAF1	chr2:33700411-33703583	GM12878	blood:	n/a	chr2:33703464-33703473 chr2:33701471-33701478
22	POLR2A	chr2:33700484-33703609	GM12891	blood:	n/a	n/a
23	POLR2A	chr2:33700480-33705420	GM12892	blood:	n/a	n/a
24	EBF1	chr2:33700415-33700970	GM12878	blood:	n/a	chr2:33700576-33700587
25	POLR2A	chr2:33700340-33706215	GM12891	blood:	n/a	n/a
26	NFATC1	chr2:33700377-33704923	GM12878	blood:	n/a	n/a
27	POLR2A	chr2:33700455-33705201	GM12892	blood:	n/a	n/a
28	MEF2A	chr2:33700274-33701174	GM12878	blood:	n/a	n/a
29	POLR2A	chr2:33700459-33705189	GM12878	blood:	n/a	n/a
30	RELA	chr2:33700394-33702146	GM18951	blood:	n/a	n/a
31	CTCF	chr2:33700171-33702235	A549	lung:	n/a	chr2:33701309-33701317
32	NFATC1	chr2:33700471-33705134	GM12878	blood:	n/a	n/a
33	POLR2A	chr2:33700442-33705042	GM18526	blood:	n/a	n/a
34	RELA	chr2:33700391-33703652	GM12892	blood:	n/a	n/a
35	POLR2A	chr2:33700425-33703656	GM12878	blood:	n/a	n/a
36	POLR2A	chr2:33700303-33705222	GM18505	blood:	n/a	n/a
37	MXI1	chr2:33700433-33705072	GM12878	blood:	n/a	n/a
38	NFIC	chr2:33700260-33704509	GM12878	blood:	n/a	n/a
39	RELA	chr2:33700425-33702286	GM19193	blood:	n/a	n/a
40	ATF2	chr2:33700215-33702042	GM12878	blood:	n/a	n/a
41	POLR2A	chr2:33700337-33705181	GM12892	blood:	n/a	n/a
42	POLR2A	chr2:33700475-33705133	GM18951	blood:	n/a	n/a
43	MTA3	chr2:33700435-33705087	GM12878	blood:	n/a	n/a
44	BHLHE40	chr2:33700260-33703171	GM12878	blood:	n/a	n/a
45	ATF2	chr2:33700310-33703643	GM12878	blood:	n/a	n/a
46	EP300	chr2:33700435-33702053	GM12878	blood:	n/a	n/a
47	RELA	chr2:33700397-33702157	GM15510	blood:	n/a	n/a
48	POLR2A	chr2:33700471-33705163	GM12892	blood:	n/a	n/a
49	POLR2A	chr2:33700331-33705182	GM12892	blood:	n/a	n/a
50	RCOR1	chr2:33700211-33702249	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
RASGRP3	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17013072	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17013184	1.00[EUR][1000 genomes]
rs35826724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv873792	chr2:33682737-33715742	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33695600-33700600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:33699200-33700600	Weak transcription	Right Ventricle	heart
3	chr2:33699200-33701000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:33699800-33700600	Weak transcription	Left Ventricle	heart
5	chr2:33700000-33700600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr2:33700000-33700600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:33700000-33700600	Weak transcription	Psoas Muscle	Psoas
8	chr2:33700200-33700600	Enhancers	Primary hematopoietic stem cells	blood
9	chr2:33700200-33700600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:33700200-33700600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:33700200-33700600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:33700200-33700600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr2:33700200-33700600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:33700200-33700600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:33700200-33700600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr2:33700200-33700600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:33700200-33700600	Enhancers	Brain Cingulate Gyrus	brain
18	chr2:33700200-33700600	Enhancers	HUVEC	blood vessel
19	chr2:33700200-33700600	Enhancers	NHDF-Ad	bronchial
20	chr2:33700200-33700800	Enhancers	Primary B cells from peripheral blood	blood
21	chr2:33700400-33700600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:33700400-33700600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:33700400-33700600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:33700400-33700600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:33700400-33700600	Enhancers	Primary B cells from cord blood	blood
26	chr2:33700400-33700600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr2:33700400-33700600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:33700400-33700600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr2:33700400-33700600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:33700400-33700600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:33700400-33700600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:33700400-33700600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:33700400-33700600	Enhancers	Liver	Liver
34	chr2:33700400-33700600	Enhancers	Brain Angular Gyrus	brain
35	chr2:33700400-33700600	Enhancers	Brain Anterior Caudate	brain
36	chr2:33700400-33700600	Enhancers	Brain Hippocampus Middle	brain
37	chr2:33700400-33700600	Enhancers	Duodenum Mucosa	Duodenum
38	chr2:33700400-33700600	Enhancers	Fetal Intestine Large	intestine
39	chr2:33700400-33700600	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr2:33700400-33700600	Enhancers	Fetal Lung	lung
41	chr2:33700400-33700600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr2:33700400-33700600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr2:33700400-33700600	Enhancers	Stomach Smooth Muscle	stomach
44	chr2:33700400-33700600	Active TSS	GM12878-XiMat	blood
45	chr2:33700400-33700600	Enhancers	Hela-S3	cervix
46	chr2:33700400-33700600	Bivalent Enhancer	HepG2	liver
47	chr2:33700400-33700800	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr2:33700400-33700800	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr2:33700400-33700800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr2:33700400-33700800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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