Variant report

Variant	rs73680325
Chromosome Location	chr8:54757217-54757218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:54757041-54757283	GM12878	blood:	n/a	n/a
2	MTA3	chr8:54756825-54757435	GM12878	blood:	n/a	n/a
3	WRNIP1	chr8:54757150-54757492	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:54756810-54757220	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr8:54755079-54757792	GM12891	blood:	n/a	n/a
6	POLR2A	chr8:54756959-54757248	GM12878	blood:	n/a	n/a
7	ATF2	chr8:54756830-54757321	GM12878	blood:	n/a	n/a
8	USF2	chr8:54757060-54757303	GM12878	blood:	n/a	n/a
9	POLR2A	chr8:54757012-54757258	GM12878	blood:	n/a	n/a
10	MXI1	chr8:54756885-54757235	GM12878	blood:	n/a	n/a
11	SMC3	chr8:54757046-54757246	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:54756920-54757435	GM12892	blood:	n/a	n/a
13	POLR2A	chr8:54757034-54757311	GM12878	blood:	n/a	n/a
14	POLR2A	chr8:54756822-54757468	GM12878	blood:	n/a	n/a
15	POLR2A	chr8:54757043-54757663	K562	blood:	n/a	n/a
16	CHD2	chr8:54757115-54757281	GM12878	blood:	n/a	n/a
17	POLR2A	chr8:54756999-54758114	Raji	blood:	n/a	n/a
18	POLR2A	chr8:54757106-54757390	HepG2	liver:	n/a	n/a
19	RUNX3	chr8:54756950-54757334	GM12878	blood:	n/a	n/a
20	POLR2A	chr8:54757001-54757222	GM12891	blood:	n/a	n/a
21	MAZ	chr8:54757114-54757285	GM12878	blood:	n/a	n/a
22	BHLHE40	chr8:54756980-54757284	GM12878	blood:	n/a	n/a
23	POLR2A	chr8:54756848-54757420	GM12878	blood:	n/a	n/a
24	RUNX3	chr8:54756880-54757353	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:54754073..54757431-chr8:54763114..54767534,4	K562	blood:
2	chr8:54755728..54757820-chr8:101732813..101735091,2	MCF-7	breast:
3	chr8:54755685..54759999-chr8:54761654..54766287,5	MCF-7	breast:
4	chr8:54756527..54758810-chr8:55013753..55015339,2	K562	blood:
5	chr8:54754942..54758152-chr8:54933404..54936388,3	K562	blood:
6	chr8:53624816..53627483-chr8:54753343..54757526,4	K562	blood:
7	chr8:54756285..54757983-chr8:54774408..54775966,2	MCF-7	breast:

No data

Variant related genes	Relation type
ATP6V1H	TF binding region
ENSG00000120992	Chromatin interaction
ENSG00000147509	Chromatin interaction
ENSG00000070756	Chromatin interaction
ENSG00000187735	Chromatin interaction
ENSG00000023287	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1004228	0.94[EUR][1000 genomes]
rs10504158	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11985729	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1384797	0.84[EUR][1000 genomes]
rs1483538	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1483539	0.94[EUR][1000 genomes]
rs1483540	0.94[EUR][1000 genomes]
rs1483542	0.83[ASN][1000 genomes]
rs16919616	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1842982	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1842983	0.94[EUR][1000 genomes]
rs1842984	0.94[EUR][1000 genomes]
rs2062226	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2306584	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2306585	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3824121	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57546155	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57553178	0.84[EUR][1000 genomes]
rs58652215	0.94[EUR][1000 genomes]
rs60696924	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60819522	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61194604	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61433056	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6994332	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6997050	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6998532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7016171	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7017291	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7017967	0.94[EUR][1000 genomes]
rs73680341	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73680342	0.94[EUR][1000 genomes]
rs73680346	0.84[EUR][1000 genomes]
rs7827611	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7831399	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7846259	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54756200-54757400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
2	chr8:54756200-54757400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
3	chr8:54756200-54757600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr8:54756200-54757800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr8:54756200-54758000	Flanking Active TSS	GM12878-XiMat	blood
6	chr8:54756400-54757400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:54756400-54757400	Enhancers	Liver	Liver
8	chr8:54756400-54757600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:54756600-54757400	Enhancers	Primary T cells from cord blood	blood
10	chr8:54756600-54757400	Enhancers	Brain Angular Gyrus	brain
11	chr8:54756600-54757400	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr8:54756600-54757400	Enhancers	Thymus	Thymus
13	chr8:54756600-54757400	Enhancers	Dnd41	blood
14	chr8:54756600-54757600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr8:54756600-54757600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr8:54756600-54757600	Enhancers	Brain Hippocampus Middle	brain
17	chr8:54756600-54757600	Enhancers	Colon Smooth Muscle	Colon
18	chr8:54756600-54757600	Enhancers	Rectal Smooth Muscle	rectum
19	chr8:54756600-54758600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:54756600-54758600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr8:54756600-54758800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:54756600-54758800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:54756600-54758800	Weak transcription	NHEK	skin
24	chr8:54756600-54759000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:54756600-54762200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:54756600-54764200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:54756600-54766200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:54756800-54757400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:54756800-54757400	Enhancers	Adipose Nuclei	Adipose
30	chr8:54756800-54757400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr8:54756800-54757400	Weak transcription	HepG2	liver
32	chr8:54756800-54758000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr8:54756800-54758600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr8:54757000-54757400	Active TSS	Colonic Mucosa	Colon
35	chr8:54757000-54757600	Weak transcription	Fetal Thymus	thymus
36	chr8:54757200-54757400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr8:54757200-54757400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr8:54757200-54757400	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr8:54757200-54757400	Enhancers	Right Ventricle	heart
40	chr8:54757200-54757400	Enhancers	Small Intestine	intestine
41	chr8:54757200-54757600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:54757200-54757600	Enhancers	Stomach Smooth Muscle	stomach
43	chr8:54757200-54758000	Active TSS	Brain Cingulate Gyrus	brain
44	chr8:54757200-54758600	Weak transcription	NHDF-Ad	bronchial
45	chr8:54757200-54758800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:54757200-54758800	Weak transcription	Brain Anterior Caudate	brain
47	chr8:54757200-54759000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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