Variant report

Variant	rs6989437
Chromosome Location	chr8:124283465-124283466
allele	A/C
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	MAFK	chr8:124283179-124283505	HepG2	liver:	n/a	chr8:124283324-124283335 chr8:124283320-124283335 chr8:124283323-124283337 chr8:124283325-124283336 chr8:124283320-124283336 chr8:124283325-124283336
2	MAFF	chr8:124283218-124283465	HepG2	liver:	n/a	chr8:124283319-124283337
3	POLR2A	chr8:124283115-124283467	K562	blood:	n/a	n/a
4	ARID3A	chr8:124283282-124283797	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124281990..124286115-chr8:124406680..124410809,6	MCF-7	breast:
2	chr8:124283412..124285759-chr8:124407440..124409463,2	K562	blood:
3	chr8:124277977..124279921-chr8:124281983..124283632,2	MCF-7	breast:
4	chr8:124268484..124272249-chr8:124280537..124283941,4	K562	blood:
5	chr8:124283412..124288800-chr8:124404176..124410687,11	K562	blood:

Variant related genes	Relation type
ZHX1	TF binding region
ENSG00000238422	TF binding region
ZHX1-C8ORF76	TF binding region
ENSG00000165156	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000259305	Chromatin interaction
ENSG00000238422	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11985341	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11985792	0.80[AMR][1000 genomes]
rs11990683	1.00[EUR][1000 genomes]
rs11990772	1.00[EUR][1000 genomes]
rs11990795	1.00[MEX][hapmap];0.83[MKK][hapmap]
rs11993945	1.00[MEX][hapmap]
rs11994660	1.00[EUR][1000 genomes]
rs16898127	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16898165	1.00[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16898199	1.00[MEX][hapmap]
rs16898247	1.00[CEU][hapmap]
rs28693459	0.85[AFR][1000 genomes]
rs2891717	0.86[ASW][hapmap];0.91[LWK][hapmap];0.98[MKK][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs55708440	1.00[EUR][1000 genomes]
rs55905385	0.80[AMR][1000 genomes]
rs57116079	0.80[AMR][1000 genomes]
rs59355895	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59413499	1.00[EUR][1000 genomes]
rs59697406	0.96[AFR][1000 genomes]
rs61288481	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6996427	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6998407	1.00[CEU][hapmap]
rs7000925	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7017197	0.85[AMR][1000 genomes]
rs73703766	1.00[EUR][1000 genomes]
rs73703768	1.00[EUR][1000 genomes]
rs73703779	1.00[EUR][1000 genomes]
rs73703788	1.00[EUR][1000 genomes]
rs7838103	0.93[ASW][hapmap];1.00[CEU][hapmap];0.98[LWK][hapmap];0.98[MKK][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs900628	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS 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	32 gene(s)	inside rSNPs	diseases
4	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124253600-124284200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr8:124254000-124284000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:124254000-124284000	Weak transcription	HSMMtube	muscle
4	chr8:124266200-124284400	Weak transcription	Stomach Mucosa	stomach
5	chr8:124267800-124285000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:124267800-124285200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:124268200-124284000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:124268200-124284200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:124268400-124284400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:124268800-124284200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr8:124270000-124285200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr8:124270200-124284000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:124270200-124284200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:124270200-124284200	Weak transcription	Fetal Kidney	kidney
15	chr8:124270400-124284000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:124270600-124283600	Weak transcription	HepG2	liver
17	chr8:124270600-124284000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr8:124270600-124284000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:124270600-124284000	Weak transcription	Brain Germinal Matrix	brain
20	chr8:124270600-124284000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:124270600-124284000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:124270600-124284000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:124270600-124284000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:124270600-124284200	Weak transcription	Brain Substantia Nigra	brain
25	chr8:124270600-124284400	Weak transcription	Primary T cells from cord blood	blood
26	chr8:124270600-124284600	Weak transcription	Aorta	Aorta
27	chr8:124270600-124284800	Weak transcription	Thymus	Thymus
28	chr8:124270600-124285000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:124270600-124285000	Weak transcription	Psoas Muscle	Psoas
30	chr8:124270600-124285200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:124270600-124285200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr8:124270600-124285400	Weak transcription	Lung	lung
33	chr8:124270800-124283600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:124270800-124284000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr8:124270800-124284000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr8:124270800-124284000	Weak transcription	Fetal Brain Male	brain
37	chr8:124270800-124284000	Weak transcription	Fetal Intestine Large	intestine
38	chr8:124270800-124284400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:124270800-124284400	Weak transcription	HUVEC	blood vessel
40	chr8:124270800-124284800	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:124270800-124285000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr8:124270800-124285000	Weak transcription	Right Ventricle	heart
43	chr8:124270800-124285000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr8:124270800-124285200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr8:124274200-124284800	Weak transcription	Primary B cells from cord blood	blood
46	chr8:124274400-124284000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:124277400-124283600	Weak transcription	Fetal Intestine Small	intestine
48	chr8:124277400-124284000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:124277400-124284400	Weak transcription	Fetal Stomach	stomach
50	chr8:124277400-124285000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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