Variant report

Variant	rs10075997
Chromosome Location	chr5:118603587-118603588
allele	C/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	RFX5	chr5:118603126-118605130	H1-hESC	embryonic stem cell:	n/a	chr5:118603838-118603847
2	YY1	chr5:118603488-118604935	H1-hESC	embryonic stem cell:	n/a	chr5:118604540-118604549 chr5:118604239-118604248 chr5:118603670-118603682
3	POLR2A	chr5:118603543-118605326	K562	blood:	n/a	n/a
4	YY1	chr5:118603505-118603914	H1-hESC	embryonic stem cell:	n/a	chr5:118603670-118603682
5	POLR2A	chr5:118603567-118605365	GM19193	blood:	n/a	n/a
6	YY1	chr5:118603494-118604802	GM12878	blood:	n/a	chr5:118604540-118604549 chr5:118604239-118604248 chr5:118603670-118603682
7	RFX5	chr5:118602622-118606174	SK-N-SH	brain:	n/a	chr5:118603838-118603847 chr5:118605625-118605634
8	TEAD4	chr5:118603587-118605454	K562	blood:	n/a	n/a
9	RAD21	chr5:118603581-118605247	IMR90	lung:	n/a	chr5:118603803-118603816 chr5:118604192-118604205
10	POLR2A	chr5:118603584-118604870	GM18526	blood:	n/a	n/a
11	NR2F2	chr5:118603576-118605265	K562	blood:	n/a	n/a
12	YY1	chr5:118603552-118603899	SK-N-SH_RA	brain:	n/a	chr5:118603670-118603682
13	ELF1	chr5:118603580-118604637	MCF-7	breast:	n/a	n/a
14	CREB1	chr5:118603544-118604573	HepG2	liver:	n/a	n/a
15	POLR2A	chr5:118603576-118603905	GM12878	blood:	n/a	n/a
16	RFX5	chr5:118603231-118604555	K562	blood:	n/a	chr5:118603838-118603847
17	POLR2A	chr5:118603515-118605394	K562	blood:	n/a	n/a
18	POLR2A	chr5:118603419-118604934	U87	brain:	n/a	n/a
19	MAX	chr5:118603513-118604869	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr5:118603473-118605317	GM12878	blood:	n/a	n/a
21	RFX5	chr5:118603343-118604862	HepG2	liver:	n/a	chr5:118603838-118603847
22	RCOR1	chr5:118603412-118605503	K562	blood:	n/a	n/a
23	FOXM1	chr5:118603466-118604925	GM12878	blood:	n/a	n/a
24	MAX	chr5:118603495-118605349	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr5:118603551-118605405	A549	lung:	n/a	n/a
26	FOXM1	chr5:118603554-118604790	GM12878	blood:	n/a	n/a
27	YY1	chr5:118603535-118604810	GM12878	blood:	n/a	chr5:118604540-118604549 chr5:118604239-118604248 chr5:118603670-118603682
28	ATF2	chr5:118603565-118604586	GM12878	blood:	n/a	n/a
29	YY1	chr5:118603564-118603950	GM12892	blood:	n/a	chr5:118603670-118603682
30	POLR2A	chr5:118603463-118604959	SK-N-MC	brain:	n/a	n/a
31	POLR2A	chr5:118603479-118605411	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr5:118603567-118604796	GM12878	blood:	n/a	n/a
33	POLR2A	chr5:118603543-118605203	SK-N-SH	brain:	n/a	n/a
34	RCOR1	chr5:118603358-118605373	K562	blood:	n/a	n/a
35	CREB1	chr5:118603538-118604857	HepG2	liver:	n/a	n/a
36	YY1	chr5:118603543-118603900	SK-N-SH_RA	brain:	n/a	chr5:118603670-118603682
37	RFX5	chr5:118602261-118605425	IMR90	lung:	n/a	chr5:118603838-118603847
38	POLR2A	chr5:118603560-118605333	GM12892	blood:	n/a	n/a
39	POLR2A	chr5:118603410-118605291	GM12878	blood:	n/a	n/a
40	REST	chr5:118603577-118604642	H1-neurons	neurons:	n/a	chr5:118604555-118604573
41	POLR2A	chr5:118603452-118605358	GM12892	blood:	n/a	n/a
42	POLR2A	chr5:118603546-118605266	K562	blood:	n/a	n/a
43	CREB1	chr5:118603520-118605105	H1-hESC	embryonic stem cell:	n/a	n/a
44	MTA3	chr5:118603507-118604318	GM12878	blood:	n/a	n/a
45	PML	chr5:118603479-118605450	GM12878	blood:	n/a	n/a
46	MAX	chr5:118603522-118605450	MCF-7	breast:	n/a	n/a
47	RAD21	chr5:118603484-118604804	MCF-7	breast:	n/a	chr5:118603803-118603816 chr5:118604192-118604205
48	MTA3	chr5:118603277-118605503	GM12878	blood:	n/a	n/a
49	MYBL2	chr5:118603537-118605056	HepG2	liver:	n/a	n/a
50	MYC	chr5:118603584-118603739	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:118586532..118588054-chr5:118602135..118604215,2	K562	blood:
2	chr5:118323865..118326797-chr5:118601908..118603876,2	K562	blood:
3	chr5:118322938..118326606-chr5:118602920..118605792,4	MCF-7	breast:
4	chr5:118406323..118408758-chr5:118602921..118606339,4	MCF-7	breast:

Variant related genes	Relation type
TNFAIP8	TF binding region
ENSG00000172869	Chromatin interaction
ENSG00000249494	Chromatin interaction
ENSG00000169570	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10035593	0.93[EUR][1000 genomes]
rs10037918	0.95[EUR][1000 genomes]
rs10051559	0.93[EUR][1000 genomes]
rs10072072	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1394628	0.98[EUR][1000 genomes]
rs1504974	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1504975	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs1504976	0.93[EUR][1000 genomes]
rs1553542	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs17144978	0.81[ASN][1000 genomes]
rs17145004	0.81[ASN][1000 genomes]
rs17145010	1.00[ASN][1000 genomes]
rs17145018	1.00[ASN][1000 genomes]
rs17145034	1.00[ASN][1000 genomes]
rs1857771	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1910788	0.85[EUR][1000 genomes]
rs2271059	0.93[EUR][1000 genomes]
rs2404397	0.95[EUR][1000 genomes]
rs2896839	0.90[EUR][1000 genomes]
rs2896840	0.98[EUR][1000 genomes]
rs3797337	0.88[EUR][1000 genomes]
rs3822517	1.00[ASN][1000 genomes]
rs3992620	0.88[EUR][1000 genomes]
rs73242987	0.81[ASN][1000 genomes]
rs73242994	0.88[EUR][1000 genomes]
rs73242996	0.88[EUR][1000 genomes]
rs73247091	1.00[ASN][1000 genomes]
rs73247093	1.00[ASN][1000 genomes]
rs7736744	0.95[EUR][1000 genomes]
rs9327092	0.90[EUR][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	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1019788	chr5:118488501-118607405	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv537882	chr5:118488501-118607405	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118592200-118603600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:118600800-118603600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:118601000-118604000	Weak transcription	Fetal Heart	heart
4	chr5:118601400-118603600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr5:118601800-118603800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:118602800-118603600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr5:118603000-118603600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr5:118603000-118603800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:118603000-118606400	Active TSS	GM12878-XiMat	blood
10	chr5:118603200-118603600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
11	chr5:118603200-118603600	Enhancers	Primary T cells fromperipheralblood	blood
12	chr5:118603200-118603600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:118603200-118603600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:118603200-118603600	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr5:118603200-118603600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr5:118603200-118603600	Enhancers	Small Intestine	intestine
17	chr5:118603200-118603800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:118603200-118603800	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr5:118603200-118603800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr5:118603200-118603800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:118603200-118603800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr5:118603200-118604000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr5:118603200-118604000	Flanking Active TSS	Dnd41	blood
24	chr5:118603200-118604200	Flanking Active TSS	K562	blood
25	chr5:118603200-118604800	Active TSS	Brain Cingulate Gyrus	brain
26	chr5:118603200-118605000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:118603200-118606600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:118603400-118603600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr5:118603400-118603600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr5:118603400-118603600	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr5:118603400-118603600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:118603400-118603600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:118603400-118603600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr5:118603400-118603600	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr5:118603400-118603600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr5:118603400-118603600	Enhancers	Fetal Intestine Large	intestine
37	chr5:118603400-118603600	Enhancers	Fetal Kidney	kidney
38	chr5:118603400-118603600	Enhancers	Fetal Muscle Leg	muscle
39	chr5:118603400-118603600	Enhancers	Fetal Thymus	thymus
40	chr5:118603400-118603600	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr5:118603400-118603600	Enhancers	Stomach Mucosa	stomach
42	chr5:118603400-118603600	ZNF genes & repeats	A549	lung
43	chr5:118603400-118603600	Flanking Active TSS	HepG2	liver
44	chr5:118603400-118603600	Flanking Active TSS	HMEC	breast
45	chr5:118603400-118603600	Flanking Active TSS	Osteobl	bone
46	chr5:118603400-118603800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr5:118603400-118603800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:118603400-118603800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr5:118603400-118603800	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr5:118603400-118603800	Flanking Active TSS	Primary hematopoietic stem cells	blood

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