Variant report

Variant	rs72711196
Chromosome Location	chr8:125385664-125385665
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	TAF1	chr8:125384636-125385690	H1-neurons	neurons:	n/a	n/a
2	CTCF	chr8:125385600-125385750	HMF	breast:	n/a	n/a
3	MAX	chr8:125384328-125385822	MCF-7	breast:	n/a	chr8:125384771-125384780
4	MAZ	chr8:125383462-125385986	IMR90	lung:	n/a	chr8:125384771-125384780 chr8:125383951-125383960
5	REST	chr8:125384424-125386049	H1-neurons	neurons:	n/a	chr8:125384649-125384662 chr8:125385113-125385126 chr8:125384466-125384474 chr8:125384653-125384662
6	SMC3	chr8:125384091-125385665	Hela-S3	cervix:	n/a	n/a
7	E2F4	chr8:125384435-125385779	MCF10A-Er-Src	breast:	n/a	chr8:125384907-125384917 chr8:125384979-125384991 chr8:125385007-125385016 chr8:125384901-125384911 chr8:125384904-125384914 chr8:125384812-125384824 chr8:125384811-125384822 chr8:125384910-125384920 chr8:125384979-125384988
8	RAD21	chr8:125384335-125385757	SK-N-SH	brain:	n/a	chr8:125384786-125384798 chr8:125385116-125385130
9	MXI1	chr8:125383183-125385961	IMR90	lung:	n/a	chr8:125384078-125384087
10	POLR2A	chr8:125384221-125385822	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr8:125384564-125385676	MCF-7	breast:	n/a	chr8:125384786-125384798 chr8:125385116-125385130
12	POLR2A	chr8:125384602-125385705	H1-neurons	neurons:	n/a	n/a
13	MAZ	chr8:125383674-125385879	GM12878	blood:	n/a	chr8:125384771-125384780 chr8:125383951-125383960
14	MAZ	chr8:125384537-125385708	HepG2	liver:	n/a	chr8:125384771-125384780
15	MAX	chr8:125383382-125385785	MCF-7	breast:	n/a	chr8:125384771-125384780 chr8:125383951-125383960
16	CCNT2	chr8:125384167-125385698	K562	blood:	n/a	chr8:125385296-125385305 chr8:125384979-125384988
17	SMC3	chr8:125382730-125386024	SK-N-SH	brain:	n/a	chr8:125383933-125383943 chr8:125384075-125384085
18	HA-E2F1	chr8:125384381-125385693	MCF-7	breast:	n/a	chr8:125384907-125384917 chr8:125384979-125384991 chr8:125385007-125385016 chr8:125384901-125384911 chr8:125384904-125384914 chr8:125384812-125384824 chr8:125384910-125384920 chr8:125384979-125384988
19	MYC	chr8:125384351-125385758	A549	lung:	n/a	chr8:125384771-125384780
20	CTCF	chr8:125385520-125385670	BE2_C	brain:	n/a	n/a
21	ELF1	chr8:125384327-125385720	MCF-7	breast:	n/a	chr8:125384905-125384917 chr8:125384908-125384920 chr8:125384909-125384918 chr8:125384906-125384915
22	CTCF	chr8:125383435-125385882	SK-N-SH	brain:	n/a	chr8:125384918-125384934 chr8:125384692-125384705 chr8:125384661-125384674
23	SIN3AK20	chr8:125383282-125385902	MCF-7	breast:	n/a	n/a
24	JUN	chr8:125384461-125385751	K562	blood:	n/a	chr8:125384772-125384780 chr8:125384771-125384781 chr8:125384770-125384782 chr8:125384978-125384987 chr8:125384768-125384779 chr8:125384977-125384986
25	CTCF	chr8:125384534-125386408	A549	lung:	n/a	chr8:125384918-125384934 chr8:125384692-125384705 chr8:125384661-125384674
26	MAX	chr8:125383290-125385704	A549	lung:	n/a	chr8:125384771-125384780 chr8:125383951-125383960
27	CTCF	chr8:125384597-125385888	MCF-7	breast:	n/a	chr8:125384918-125384934 chr8:125384692-125384705 chr8:125384661-125384674
28	ZC3H11A	chr8:125385376-125385693	K562	blood:	n/a	n/a
29	MXI1	chr8:125382519-125385902	SK-N-SH	brain:	n/a	chr8:125384078-125384087
30	RFX5	chr8:125384242-125385749	Hela-S3	cervix:	n/a	n/a
31	POU2F2	chr8:125385285-125385715	GM12878	blood:	n/a	chr8:125385525-125385534 chr8:125385526-125385533 chr8:125385524-125385534
32	HDAC2	chr8:125383358-125385827	MCF-7	breast:	n/a	n/a
33	ZNF263	chr8:125384414-125385831	HEK293-T-REx	kidney:	n/a	chr8:125385050-125385059 chr8:125384964-125384973
34	ZNF143	chr8:125385515-125385666	Hela-S3	cervix:	n/a	n/a
35	GATA2	chr8:125385017-125385841	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125049737..125050909-chr8:125384988..125386022,4	MCF-7	breast:
2	chr8:125151766..125155460-chr8:125383526..125385815,4	MCF-7	breast:

Variant related genes	Relation type
TMEM65	TF binding region
ENSG00000250727	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17369980	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs56041216	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72710855	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72710858	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72710860	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72710862	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72710871	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72710872	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72710882	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72711199	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72711201	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv521356	chr8:125309055-125404763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv527751	chr8:125338216-125431030	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv3437541	chr8:125382796-125386144	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	esv3398602	chr8:125383071-125386069	Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125381000-125385800	Active TSS	Right Ventricle	heart
2	chr8:125382200-125385800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:125382600-125385800	Active TSS	Brain Hippocampus Middle	brain
4	chr8:125382600-125385800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr8:125382600-125385800	Active TSS	Stomach Smooth Muscle	stomach
6	chr8:125382800-125385800	Active TSS	Brain Anterior Caudate	brain
7	chr8:125382800-125385800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:125382800-125385800	Active TSS	Fetal Kidney	kidney
9	chr8:125383000-125385800	Active TSS	NH-A	brain
10	chr8:125383000-125385800	Active TSS	NHLF	lung
11	chr8:125383200-125385800	Active TSS	Muscle Satellite Cultured Cells	--
12	chr8:125383200-125385800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr8:125383400-125385800	Active TSS	Colon Smooth Muscle	Colon
14	chr8:125383400-125385800	Active TSS	Placenta	Placenta
15	chr8:125383400-125385800	Active TSS	Pancreas	Pancrea
16	chr8:125383600-125385800	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr8:125383800-125385800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr8:125383800-125385800	Active TSS	Brain Substantia Nigra	brain
19	chr8:125383800-125386000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:125385000-125385800	Active TSS	Right Atrium	heart
21	chr8:125385200-125385800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:125385200-125385800	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr8:125385200-125385800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr8:125385200-125385800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:125385200-125385800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:125385200-125385800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:125385200-125385800	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr8:125385200-125385800	Flanking Active TSS	HUVEC	blood vessel
29	chr8:125385400-125385800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr8:125385400-125385800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr8:125385400-125385800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:125385400-125385800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
33	chr8:125385400-125385800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
34	chr8:125385400-125385800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr8:125385400-125385800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
36	chr8:125385400-125385800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:125385400-125385800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
38	chr8:125385400-125385800	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr8:125385400-125385800	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr8:125385400-125385800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr8:125385400-125385800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr8:125385400-125385800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr8:125385400-125385800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:125385400-125385800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr8:125385400-125385800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr8:125385400-125385800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:125385400-125385800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr8:125385400-125385800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:125385400-125385800	Flanking Active TSS	Liver	Liver
50	chr8:125385400-125385800	Active TSS	Brain Germinal Matrix	brain

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