Variant report

Variant	rs11750400
Chromosome Location	chr5:96077968-96077969
allele	A/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	MEF2A	chr5:96077581-96077983	K562	blood:	n/a	chr5:96077829-96077840 chr5:96077827-96077841
2	HEY1	chr5:96077714-96078023	K562	blood:	n/a	n/a
3	YY1	chr5:96077679-96078013	K562	blood:	n/a	n/a
4	TRIM28	chr5:96077521-96078070	K562	blood:	n/a	n/a
5	NR2F2	chr5:96077503-96078116	K562	blood:	n/a	n/a
6	BHLHE40	chr5:96077307-96078046	K562	blood:	n/a	n/a
7	IRF1	chr5:96077557-96078157	K562	blood:	n/a	n/a
8	CEBPD	chr5:96077575-96078036	K562	blood:	n/a	n/a
9	REST	chr5:96077574-96077982	K562	blood:	n/a	n/a
10	ZMIZ1	chr5:96077496-96078022	K562	blood:	n/a	n/a
11	STAT5A	chr5:96077539-96077996	K562	blood:	n/a	n/a
12	GTF2F1	chr5:96077635-96077976	K562	blood:	n/a	n/a
13	GABPA	chr5:96077652-96077971	K562	blood:	n/a	n/a
14	MYC	chr5:96077573-96078079	K562	blood:	n/a	n/a
15	STAT5A	chr5:96077495-96078063	K562	blood:	n/a	n/a
16	TEAD4	chr5:96077491-96078043	K562	blood:	n/a	n/a
17	MAX	chr5:96077601-96077974	K562	blood:	n/a	n/a
18	POLR2A	chr5:96077558-96078080	K562	blood:	n/a	n/a
19	GTF2B	chr5:96077642-96078027	K562	blood:	n/a	n/a
20	CBX3	chr5:96077503-96078037	K562	blood:	n/a	n/a
21	EGR1	chr5:96077617-96078019	K562	blood:	n/a	n/a
22	EP300	chr5:96077667-96078119	GM12878	blood:	n/a	chr5:96077715-96077731 chr5:96078053-96078063
23	POLR2A	chr5:96077822-96078237	HepG2	liver:	n/a	n/a
24	POLR2A	chr5:96077582-96078262	K562	blood:	n/a	n/a
25	TBL1XR1	chr5:96077555-96078020	K562	blood:	n/a	n/a
26	HEY1	chr5:96077738-96078011	K562	blood:	n/a	n/a
27	EGR1	chr5:96077695-96078002	K562	blood:	n/a	n/a
28	PML	chr5:96077527-96078101	K562	blood:	n/a	n/a
29	ARID3A	chr5:96077601-96078075	K562	blood:	n/a	n/a
30	MEF2A	chr5:96077515-96078034	K562	blood:	n/a	chr5:96077829-96077840 chr5:96077827-96077841
31	GATA2	chr5:96077548-96078035	K562	blood:	n/a	n/a
32	POLR2A	chr5:96077586-96078054	K562	blood:	n/a	n/a
33	HCFC1	chr5:96077694-96078198	K562	blood:	n/a	n/a
34	TEAD4	chr5:96077519-96078031	K562	blood:	n/a	n/a
35	JUN	chr5:96077053-96080143	K562	blood:	n/a	chr5:96079256-96079266 chr5:96079257-96079265 chr5:96079257-96079265 chr5:96079256-96079266 chr5:96079258-96079265 chr5:96079256-96079266 chr5:96077858-96077866 chr5:96079256-96079266
36	MAX	chr5:96077610-96078024	K562	blood:	n/a	n/a
37	GATA1	chr5:96077585-96077988	PBDEFetal	blood:	n/a	n/a
38	GATA2	chr5:96077604-96077981	K562	blood:	n/a	n/a
39	GATA1	chr5:96077100-96078422	PBDE	blood:	n/a	n/a
40	ZNF143	chr5:96077628-96077989	K562	blood:	n/a	n/a
41	PML	chr5:96077557-96078134	K562	blood:	n/a	n/a
42	RCOR1	chr5:96077469-96078593	K562	blood:	n/a	n/a
43	TAF1	chr5:96077537-96078010	K562	blood:	n/a	n/a
44	UBTF	chr5:96077616-96078053	K562	blood:	n/a	n/a
45	CEBPD	chr5:96077497-96078063	K562	blood:	n/a	n/a
46	TBL1XR1	chr5:96077675-96077997	K562	blood:	n/a	n/a
47	MXI1	chr5:96077572-96077971	K562	blood:	n/a	n/a
48	MAZ	chr5:96077416-96078467	K562	blood:	n/a	n/a
49	TBP	chr5:96077584-96078122	K562	blood:	n/a	n/a
50	YY1	chr5:96077673-96077996	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:96034750..96038584-chr5:96076223..96079664,4	K562	blood:
2	chr5:96035534..96040371-chr5:96075768..96079687,8	K562	blood:
3	chr5:96076665..96080894-chr5:96142161..96145119,4	K562	blood:
4	chr5:96076844..96078562-chr5:96116858..96119670,2	K562	blood:

Variant related genes	Relation type
CAST	TF binding region
ENSG00000164307	Chromatin interaction
ENSG00000153113	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10447215	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10515244	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10515246	0.86[EUR][1000 genomes]
rs11738135	0.85[EUR][1000 genomes]
rs11739280	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11744642	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11745122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11750399	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11750510	0.86[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12186366	0.86[EUR][1000 genomes]
rs12188168	0.86[EUR][1000 genomes]
rs1559085	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17082200	0.85[EUR][1000 genomes]
rs17086588	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs17400685	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17400741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17401901	0.86[EUR][1000 genomes]
rs17402639	0.87[EUR][1000 genomes]
rs17478897	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17479052	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34942552	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55695458	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56116814	0.84[EUR][1000 genomes]
rs56122780	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56257788	0.85[EUR][1000 genomes]
rs6864233	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72772090	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72772091	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72772092	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72772095	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72773906	0.86[EUR][1000 genomes]
rs72773912	0.87[EUR][1000 genomes]
rs72773919	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv830411	chr5:96045168-96187817	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv516293	chr5:96070205-96216387	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96057800-96098600	Weak transcription	Fetal Brain Male	brain
2	chr5:96058000-96078200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:96062800-96081400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:96063000-96126200	Weak transcription	Brain Germinal Matrix	brain
5	chr5:96064600-96092600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:96066800-96079400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:96068200-96095400	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr5:96068200-96100400	Strong transcription	Liver	Liver
9	chr5:96068400-96138200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr5:96068600-96130000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:96069400-96094000	Strong transcription	Fetal Muscle Leg	muscle
12	chr5:96069600-96094000	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:96070200-96083400	Strong transcription	Duodenum Mucosa	Duodenum
14	chr5:96070200-96087800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:96070200-96116400	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr5:96070600-96079200	Strong transcription	Placenta	Placenta
17	chr5:96070800-96095400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr5:96071000-96078400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:96071000-96112800	Strong transcription	Hela-S3	cervix
20	chr5:96071200-96078600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:96071200-96085000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:96071200-96088000	Strong transcription	A549	lung
23	chr5:96071200-96094000	Strong transcription	HSMM	muscle
24	chr5:96071400-96078400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:96071400-96078600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:96071400-96078600	Weak transcription	Right Atrium	heart
27	chr5:96071400-96113000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr5:96071400-96126600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:96071600-96103200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr5:96071800-96078400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:96071800-96083400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:96071800-96084200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:96072000-96079200	Strong transcription	Adipose Nuclei	Adipose
34	chr5:96072200-96079000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:96072400-96078600	Strong transcription	Osteobl	bone
36	chr5:96072400-96086400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr5:96072400-96088400	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr5:96072600-96079000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:96072600-96079200	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:96072600-96081400	Strong transcription	Pancreas	Pancrea
41	chr5:96072600-96115600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:96072800-96078200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:96072800-96079200	Strong transcription	NH-A	brain
44	chr5:96072800-96083600	Strong transcription	Brain Anterior Caudate	brain
45	chr5:96072800-96086400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:96072800-96087800	Strong transcription	NHLF	lung
47	chr5:96072800-96094600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr5:96072800-96095200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr5:96072800-96095200	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr5:96073000-96078600	Strong transcription	HUVEC	blood vessel

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