Variant report

Variant	rs67808321
Chromosome Location	chr8:95385545-95385546
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	STAT3	chr8:95385367-95386003	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr8:95385391-95385881	MCF10A-Er-Src	breast:	n/a	n/a
3	TFAP2C	chr8:95385356-95385867	Hela-S3	cervix:	n/a	n/a
4	FOS	chr8:95385321-95385774	MCF10A-Er-Src	breast:	n/a	n/a
5	TCF12	chr8:95385049-95386002	SK-N-SH	brain:	n/a	n/a
6	TFAP2A	chr8:95385421-95385815	Hela-S3	cervix:	n/a	chr8:95385567-95385582
7	POLR2A	chr8:95385387-95385923	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr8:95385432-95385973	U87	brain:	n/a	n/a
9	STAT3	chr8:95385401-95385868	MCF10A-Er-Src	breast:	n/a	n/a
10	FOSL1	chr8:95385312-95385789	HCT-116	colon:	n/a	n/a
11	PBX3	chr8:95385251-95385848	SK-N-SH	brain:	n/a	n/a
12	CEBPB	chr8:95385371-95385668	A549	lung:	n/a	n/a
13	SIN3AK20	chr8:95385140-95385950	MCF-7	breast:	n/a	n/a
14	CEBPB	chr8:95385329-95385805	IMR90	lung:	n/a	n/a
15	FOS	chr8:95385349-95385761	MCF10A-Er-Src	breast:	n/a	n/a
16	EP300	chr8:95385274-95386024	SK-N-SH	brain:	n/a	n/a
17	FOSL2	chr8:95385278-95385923	SK-N-SH	brain:	n/a	n/a
18	CEBPB	chr8:95385258-95385813	Hela-S3	cervix:	n/a	n/a
19	STAT3	chr8:95385324-95385766	MCF10A-Er-Src	breast:	n/a	n/a
20	JUND	chr8:95385336-95385795	HCT-116	colon:	n/a	n/a
21	STAT3	chr8:95385408-95385833	MCF10A-Er-Src	breast:	n/a	n/a
22	CBX3	chr8:95385386-95385831	HCT-116	colon:	n/a	n/a
23	MYC	chr8:95385407-95385702	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr8:95385362-95385786	MCF10A-Er-Src	breast:	n/a	n/a
25	TCF12	chr8:95385223-95386038	SK-N-SH	brain:	n/a	n/a
26	GATA3	chr8:95384913-95386029	SK-N-SH	brain:	n/a	n/a
27	ATF3	chr8:95385376-95385813	HCT-116	colon:	n/a	n/a
28	FOS	chr8:95385370-95385776	MCF10A-Er-Src	breast:	n/a	n/a
29	PBX3	chr8:95385259-95385874	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr8:95385415-95385770	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr8:95385438-95385671	MCF10A-Er-Src	breast:	n/a	n/a
32	GATA3	chr8:95385002-95386021	SK-N-SH	brain:	n/a	n/a
33	ZNF217	chr8:95385411-95385889	MCF-7	breast:	n/a	n/a
34	MYC	chr8:95385417-95386033	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RAD54B	TF binding region

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10102233	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10102496	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10109060	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1011249	0.91[ASN][1000 genomes]
rs10112606	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10216902	0.90[ASN][1000 genomes]
rs10464877	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10504936	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10956911	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545262	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12674614	0.80[ASN][1000 genomes]
rs12675415	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12676373	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12679347	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12680029	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12680213	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12681366	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12681504	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12682038	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13280849	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13281619	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1561648	0.90[ASN][1000 genomes]
rs1598713	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916760	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16916788	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16916796	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16916802	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1872889	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2043987	0.89[ASN][1000 genomes]
rs2291439	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2381793	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28413800	0.83[ASN][1000 genomes]
rs28641679	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2919660	0.90[ASN][1000 genomes]
rs2919662	0.90[ASN][1000 genomes]
rs2919672	0.91[ASN][1000 genomes]
rs2919673	0.91[ASN][1000 genomes]
rs2921389	0.90[ASN][1000 genomes]
rs2930958	0.91[ASN][1000 genomes]
rs2930961	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2930962	0.91[ASN][1000 genomes]
rs2930968	0.90[ASN][1000 genomes]
rs2930970	0.90[ASN][1000 genomes]
rs2930971	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2931633	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2960122	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3019146	0.92[ASN][1000 genomes]
rs3019148	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3019154	0.91[ASN][1000 genomes]
rs3019279	0.91[ASN][1000 genomes]
rs35889192	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4735288	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735291	0.81[ASN][1000 genomes]
rs4735292	0.93[ASN][1000 genomes]
rs56285115	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58826082	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66787185	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67639046	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980687	0.89[ASN][1000 genomes]
rs6991077	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6997115	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs716770	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72672679	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7824722	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7825731	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7831073	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][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	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv1031480	chr8:95375696-95447407	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95365800-95417200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:95372000-95414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:95372800-95391200	Weak transcription	HepG2	liver
4	chr8:95373800-95385600	Weak transcription	Fetal Kidney	kidney
5	chr8:95373800-95391600	Weak transcription	Fetal Lung	lung
6	chr8:95374000-95390400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:95374000-95391000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:95374400-95390400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:95374600-95392200	Weak transcription	Fetal Intestine Large	intestine
10	chr8:95374800-95391400	Weak transcription	Fetal Intestine Small	intestine
11	chr8:95375000-95389400	Weak transcription	Fetal Thymus	thymus
12	chr8:95376400-95387400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:95377600-95390800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr8:95377800-95391000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:95377800-95412000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:95378000-95391400	Weak transcription	Thymus	Thymus
17	chr8:95378200-95391400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:95378200-95403200	Weak transcription	Brain Angular Gyrus	brain
19	chr8:95378200-95417200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:95378400-95391000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:95378400-95391200	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:95378800-95390400	Weak transcription	Brain Substantia Nigra	brain
23	chr8:95379200-95391400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr8:95379200-95403600	Weak transcription	Brain Anterior Caudate	brain
25	chr8:95379400-95407000	Weak transcription	Fetal Stomach	stomach
26	chr8:95379400-95413200	Weak transcription	Fetal Brain Male	brain
27	chr8:95379600-95390800	Weak transcription	Fetal Brain Female	brain
28	chr8:95380200-95389200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:95380200-95391400	Weak transcription	Brain Germinal Matrix	brain
30	chr8:95380200-95409400	Weak transcription	HSMMtube	muscle
31	chr8:95380800-95389400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:95380800-95392000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:95381000-95390200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:95381000-95393000	Weak transcription	Primary B cells from cord blood	blood
35	chr8:95381400-95391400	Weak transcription	Ovary	ovary
36	chr8:95381600-95385800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:95381600-95385800	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:95382200-95385800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:95382400-95390800	Weak transcription	Liver	Liver
40	chr8:95382400-95391000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr8:95382400-95414800	Weak transcription	Gastric	stomach
42	chr8:95382600-95389200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:95382800-95390400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:95382800-95391400	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr8:95383000-95392000	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr8:95383200-95386000	Strong transcription	Dnd41	blood
47	chr8:95383200-95403600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:95383800-95390800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:95384000-95388000	Weak transcription	GM12878-XiMat	blood
50	chr8:95384200-95390400	Weak transcription	K562	blood

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