Variant report

Variant	rs1984636
Chromosome Location	chr5:75698291-75698292
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	TEAD4	chr5:75698028-75698501	HepG2	liver:	n/a	chr5:75698271-75698280
2	ATF2	chr5:75698195-75699207	GM12878	blood:	n/a	n/a
3	PML	chr5:75698120-75699060	K562	blood:	n/a	chr5:75698479-75698487
4	POLR2A	chr5:75697542-75700781	GM12892	blood:	n/a	n/a
5	CTCF	chr5:75698068-75700127	SK-N-SH	brain:	n/a	n/a
6	JUND	chr5:75698260-75699302	K562	blood:	n/a	chr5:75698418-75698427
7	BACH1	chr5:75698288-75700186	H1-hESC	embryonic stem cell:	n/a	n/a
8	RELA	chr5:75697664-75699235	GM10847	blood:	n/a	n/a
9	CEBPB	chr5:75698191-75699037	GM12878	blood:	n/a	n/a
10	BHLHE40	chr5:75698232-75699237	GM12878	blood:	n/a	chr5:75698929-75698945 chr5:75698937-75698953
11	JUN	chr5:75698132-75698570	K562	blood:	n/a	chr5:75698418-75698427
12	MAFF	chr5:75698287-75698325	K562	blood:	n/a	n/a
13	MYC	chr5:75698151-75699344	K562	blood:	n/a	chr5:75698525-75698535 chr5:75699034-75699041 chr5:75698561-75698570
14	MAX	chr5:75698130-75698679	K562	blood:	n/a	chr5:75698525-75698535 chr5:75698561-75698570
15	SIN3A	chr5:75698046-75700359	H1-hESC	embryonic stem cell:	n/a	chr5:75698786-75698800 chr5:75699450-75699463 chr5:75698919-75698932 chr5:75700124-75700137 chr5:75700189-75700198
16	TBP	chr5:75698025-75699931	K562	blood:	n/a	n/a
17	STAT5A	chr5:75698237-75699206	GM12878	blood:	n/a	chr5:75699103-75699114
18	TEAD4	chr5:75697985-75699239	K562	blood:	n/a	chr5:75698271-75698280
19	ZNF143	chr5:75698239-75699276	K562	blood:	n/a	n/a
20	CREB1	chr5:75698042-75699312	K562	blood:	n/a	n/a
21	POLR2A	chr5:75698213-75699301	HL-60	blood:	n/a	n/a
22	NFIC	chr5:75698143-75699201	GM12878	blood:	n/a	n/a
23	MXI1	chr5:75698216-75702271	GM12878	blood:	n/a	chr5:75700189-75700198 chr5:75700187-75700196
24	CREB1	chr5:75698284-75699336	GM12878	blood:	n/a	n/a
25	BHLHE40	chr5:75697972-75699258	K562	blood:	n/a	chr5:75698929-75698945 chr5:75698937-75698953
26	RAD21	chr5:75698254-75698565	SK-N-SH_RA	brain:	n/a	n/a
27	STAT3	chr5:75698202-75698326	GM12878	blood:	n/a	n/a
28	ELF1	chr5:75698063-75699244	GM12878	blood:	n/a	chr5:75698248-75698259 chr5:75699125-75699134
29	CTCF	chr5:75698266-75699249	K562	blood:	n/a	n/a
30	TBL1XR1	chr5:75698104-75699072	K562	blood:	n/a	n/a
31	GATA1	chr5:75697927-75699446	PBDE	blood:	n/a	chr5:75698571-75698588
32	POLR2A	chr5:75697442-75702072	GM12891	blood:	n/a	n/a
33	NR2F2	chr5:75697911-75699196	K562	blood:	n/a	n/a
34	ZMIZ1	chr5:75698167-75699227	K562	blood:	n/a	n/a
35	CEBPD	chr5:75698001-75699289	K562	blood:	n/a	n/a
36	NR2F2	chr5:75698066-75698996	K562	blood:	n/a	n/a
37	CEBPB	chr5:75698083-75698635	K562	blood:	n/a	n/a
38	POLR2A	chr5:75697532-75701068	GM19193	blood:	n/a	n/a
39	ZNF143	chr5:75698153-75700855	GM12878	blood:	n/a	n/a
40	MYC	chr5:75697463-75701163	NB4	blood:	n/a	chr5:75700187-75700198 chr5:75700187-75700198 chr5:75700188-75700197 chr5:75700188-75700197 chr5:75700186-75700196 chr5:75698525-75698535 chr5:75700188-75700198 chr5:75700187-75700198 chr5:75700187-75700196 chr5:75700186-75700199 chr5:75700187-75700197 chr5:75700188-75700198 chr5:75700186-75700199 chr5:75699920-75699930 chr5:75700187-75700198 chr5:75700187-75700197 chr5:75700184-75700199 chr5:75699034-75699041 chr5:75700223-75700233 chr5:75698561-75698570 chr5:75700188-75700197 chr5:75700191-75700199 chr5:75700007-75700017
41	STAT5A	chr5:75698236-75699223	GM12878	blood:	n/a	chr5:75699103-75699114
42	CBX3	chr5:75697937-75699229	K562	blood:	n/a	n/a
43	MYC	chr5:75698050-75699185	K562	blood:	n/a	chr5:75698525-75698535 chr5:75699034-75699041 chr5:75698561-75698570
44	CCNT2	chr5:75698149-75699533	K562	blood:	n/a	chr5:75698222-75698242 chr5:75698568-75698588
45	GATA3	chr5:75698070-75698474	T-47D	breast:	n/a	n/a
46	FOXM1	chr5:75698209-75699228	GM12878	blood:	n/a	n/a
47	CTCF	chr5:75698288-75699351	GM12878	blood:	n/a	n/a
48	STAT5A	chr5:75698085-75698813	K562	blood:	n/a	n/a
49	POLR2A	chr5:75698073-75699516	K562	blood:	n/a	n/a
50	ELF1	chr5:75698193-75698623	K562	blood:	n/a	chr5:75698248-75698259

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75682196..75684123-chr5:75696956..75698621,2	MCF-7	breast:

Variant related genes	Relation type
IQGAP2	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10057706	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10059376	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10075621	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10462539	0.80[ASN][1000 genomes]
rs10462540	0.81[ASN][1000 genomes]
rs1122654	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11738470	0.81[ASN][1000 genomes]
rs11740038	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs12189455	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13357820	0.83[ASN][1000 genomes]
rs2002858	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28386181	0.80[ASN][1000 genomes]
rs3886043	0.82[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs3951318	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55995866	0.83[ASN][1000 genomes]
rs62363209	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62363210	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62363211	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62363252	0.84[AMR][1000 genomes]
rs6453217	0.81[JPT][hapmap]
rs6887687	0.81[AMR][1000 genomes]
rs6895725	0.83[ASN][1000 genomes]
rs7706926	0.81[JPT][hapmap]
rs7718320	0.80[MEX][hapmap]
rs875541	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs875543	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv882206	chr5:75676658-75746813	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75697200-75698400	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr5:75697400-75698400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:75697400-75698400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:75697600-75698400	Flanking Active TSS	Primary B cells from peripheral blood	blood
5	chr5:75697600-75698400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr5:75697600-75698400	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr5:75697600-75698400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr5:75697600-75698400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:75697600-75698400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr5:75697600-75698400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr5:75697600-75698400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr5:75697600-75698400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:75697600-75698400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr5:75697600-75698400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
15	chr5:75697600-75699400	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr5:75697600-75699600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
17	chr5:75697600-75699800	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr5:75697600-75701200	Active TSS	Rectal Smooth Muscle	rectum
19	chr5:75697800-75698400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr5:75697800-75698400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:75697800-75698400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
22	chr5:75697800-75698400	Flanking Active TSS	Colonic Mucosa	Colon
23	chr5:75697800-75698400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
24	chr5:75697800-75698400	Flanking Active TSS	HepG2	liver
25	chr5:75697800-75698600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:75697800-75698600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
27	chr5:75697800-75698800	Weak transcription	Spleen	Spleen
28	chr5:75697800-75699000	Bivalent/Poised TSS	Psoas Muscle	Psoas
29	chr5:75697800-75699000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
30	chr5:75697800-75699600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:75697800-75699600	Active TSS	Fetal Intestine Small	intestine
32	chr5:75697800-75699600	Bivalent/Poised TSS	NHEK	skin
33	chr5:75697800-75700000	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr5:75697800-75700000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:75697800-75700400	Active TSS	Fetal Lung	lung
36	chr5:75697800-75700600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr5:75697800-75701200	Active TSS	Right Atrium	heart
38	chr5:75697800-75702000	Active TSS	Fetal Kidney	kidney
39	chr5:75698000-75698400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:75698000-75698400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr5:75698000-75698400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:75698000-75698400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:75698000-75698400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
44	chr5:75698000-75698400	Flanking Active TSS	Thymus	Thymus
45	chr5:75698000-75698600	Active TSS	Fetal Brain Female	brain
46	chr5:75698000-75698600	Flanking Active TSS	Fetal Thymus	thymus
47	chr5:75698000-75698600	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr5:75698000-75698800	Flanking Active TSS	Dnd41	blood
49	chr5:75698000-75699200	Active TSS	Fetal Heart	heart
50	chr5:75698000-75699400	Active TSS	Brain Anterior Caudate	brain

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