Variant report

Variant	rs2979159
Chromosome Location	chr8:8243979-8243980
allele	A/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	POLR2A	chr8:8241189-8244122	GM12891	blood:	n/a	n/a
2	HEY1	chr8:8243708-8244709	HepG2	liver:	n/a	chr8:8243837-8243852 chr8:8243925-8243940
3	MAZ	chr8:8242901-8244896	IMR90	lung:	n/a	chr8:8244478-8244486 chr8:8244479-8244490 chr8:8244480-8244489
4	MYC	chr8:8243040-8244118	NB4	blood:	n/a	n/a
5	POLR2A	chr8:8243633-8244234	Gliobla	brain:	n/a	n/a
6	MAX	chr8:8242999-8244125	GM12878	blood:	n/a	n/a
7	UBTF	chr8:8243453-8244104	K562	blood:	n/a	n/a
8	POU2F2	chr8:8243716-8244091	GM12878	blood:	n/a	chr8:8243846-8243858
9	REST	chr8:8243617-8244002	HepG2	liver:	n/a	chr8:8243653-8243666 chr8:8243650-8243668 chr8:8243619-8243629
10	MXI1	chr8:8242099-8244945	SK-N-SH	brain:	n/a	n/a
11	RAD21	chr8:8243708-8244145	SK-N-SH_RA	brain:	n/a	chr8:8243828-8243841
12	POLR2A	chr8:8243095-8244618	GM19193	blood:	n/a	n/a
13	MAX	chr8:8243813-8244047	A549	lung:	n/a	n/a
14	POLR2A	chr8:8243726-8244578	A549	lung:	n/a	n/a
15	POLR2A	chr8:8243532-8244672	A549	lung:	n/a	n/a
16	RAD21	chr8:8243615-8244137	H1-hESC	embryonic stem cell:	n/a	chr8:8243690-8243702 chr8:8243828-8243841
17	RCOR1	chr8:8243741-8244109	HepG2	liver:	n/a	n/a
18	TAF1	chr8:8243653-8244111	SK-N-SH	brain:	n/a	n/a
19	SIN3AK20	chr8:8243789-8244036	HepG2	liver:	n/a	n/a
20	POLR2A	chr8:8243709-8244051	SK-N-SH	brain:	n/a	n/a
21	MXI1	chr8:8243725-8243998	H1-hESC	embryonic stem cell:	n/a	n/a
22	YY1	chr8:8243701-8244151	GM12891	blood:	n/a	n/a
23	POLR2A	chr8:8242810-8244984	H1-hESC	embryonic stem cell:	n/a	n/a
24	TBP	chr8:8243371-8244887	H1-hESC	embryonic stem cell:	n/a	n/a
25	TAF1	chr8:8243719-8244102	GM12878	blood:	n/a	n/a
26	PML	chr8:8243816-8244031	GM12878	blood:	n/a	n/a
27	SIN3AK20	chr8:8242858-8244068	SK-N-SH	brain:	n/a	n/a
28	MXI1	chr8:8243017-8244055	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr8:8243028-8244087	Hela-S3	cervix:	n/a	n/a
30	FOXP2	chr8:8243644-8244746	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr8:8243644-8244103	SK-N-SH	brain:	n/a	n/a
32	PBX3	chr8:8243675-8244177	SK-N-SH	brain:	n/a	n/a
33	SIN3AK20	chr8:8243712-8244023	A549	lung:	n/a	n/a
34	SIN3AK20	chr8:8243282-8244105	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr8:8243756-8244063	HepG2	liver:	n/a	n/a
36	POLR2A	chr8:8243462-8244272	NB4	blood:	n/a	n/a
37	POLR2A	chr8:8243740-8244025	GM12891	blood:	n/a	n/a
38	SIN3AK20	chr8:8243374-8244052	PFSK-1	brain:	n/a	n/a
39	POLR2A	chr8:8243712-8244465	HEK293	kidney:	n/a	n/a
40	MYC	chr8:8243843-8244035	K562	blood:	n/a	n/a
41	ZNF143	chr8:8243834-8244106	GM12878	blood:	n/a	n/a
42	EGR1	chr8:8243825-8244128	GM12878	blood:	n/a	chr8:8243986-8244000
43	POLR2A	chr8:8241334-8244104	GM12878	blood:	n/a	n/a
44	MAX	chr8:8242882-8244925	HepG2	liver:	n/a	chr8:8244478-8244486 chr8:8244479-8244490 chr8:8244480-8244489
45	SP1	chr8:8243611-8244068	A549	lung:	n/a	n/a
46	POLR2A	chr8:8243553-8244147	Hela-S3	cervix:	n/a	n/a
47	RFX5	chr8:8243977-8244007	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr8:8243081-8244668	MCF-7	breast:	n/a	n/a
49	POLR2A	chr8:8242993-8244207	GM12878	blood:	n/a	n/a
50	POLR2A	chr8:8243690-8244172	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:32534438..32535095-chr8:8243578..8244437,2	HCT-116	colon:
2	chr8:8238437..8240547-chr8:8242096..8244614,4	K562	blood:
3	chr8:8235042..8240063-chr8:8240771..8244973,7	MCF-7	breast:
4	chr8:8241927..8245169-chr8:8316549..8319625,5	MCF-7	breast:
5	chr6:26124305..26124938-chr8:8243493..8244064,2	HCT-116	colon:
6	chr8:8242160..8245521-chr8:8318713..8321604,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182319	TF binding region
ENSG00000106355	Chromatin interaction
ENSG00000254153	Chromatin interaction
ENSG00000105778	Chromatin interaction
ENSG00000182319	Chromatin interaction
ENSG00000180573	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2976956	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2976958	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817196	chr8:8079861-8255544	Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv465448	chr8:8098079-8403142	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv610152	chr8:8098079-8403142	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv610153	chr8:8098079-8454531	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv610154	chr8:8101641-8328101	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1032259	chr8:8108863-8247113	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1020290	chr8:8108863-8260280	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv539440	chr8:8108863-8260280	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv1029268	chr8:8130629-8403435	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv539446	chr8:8130629-8403435	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
15	nsv831227	chr8:8204838-8367160	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
17	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
18	nsv1019613	chr8:8239352-8636357	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv539452	chr8:8239352-8636357	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
20	esv3346563	chr8:8242967-8245515	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
21	esv3328926	chr8:8242992-8245190	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8241200-8244400	Active TSS	NHLF	lung
2	chr8:8241200-8244600	Active TSS	Psoas Muscle	Psoas
3	chr8:8241200-8245000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:8241200-8245000	Active TSS	HSMMtube	muscle
5	chr8:8241400-8244800	Active TSS	Rectal Smooth Muscle	rectum
6	chr8:8241600-8244400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:8241600-8245000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr8:8241800-8244200	Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr8:8241800-8244200	Active TSS	GM12878-XiMat	blood
10	chr8:8241800-8244400	Active TSS	Placenta Amnion	Placenta Amnion
11	chr8:8241800-8244600	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr8:8241800-8244600	Active TSS	A549	lung
13	chr8:8241800-8244800	Active TSS	H1 Cell Line	embryonic stem cell
14	chr8:8241800-8244800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:8241800-8245000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:8241800-8245200	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr8:8241800-8245200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:8242000-8244600	Active TSS	Fetal Kidney	kidney
19	chr8:8242000-8245000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:8242000-8245000	Active TSS	Fetal Brain Female	brain
21	chr8:8242000-8245200	Active TSS	H9 Cell Line	embryonic stem cell
22	chr8:8242000-8245400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:8242000-8245400	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr8:8242000-8245600	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr8:8242200-8245000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:8242400-8244200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:8242400-8244200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:8242400-8244200	Active TSS	HMEC	breast
29	chr8:8242400-8244400	Active TSS	Esophagus	oesophagus
30	chr8:8242400-8244400	Active TSS	HSMM	muscle
31	chr8:8242400-8244600	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr8:8242400-8244600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:8242400-8244600	Active TSS	Left Ventricle	heart
34	chr8:8242400-8244600	Active TSS	Ovary	ovary
35	chr8:8242400-8244600	Active TSS	NH-A	brain
36	chr8:8242400-8244800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:8242400-8244800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:8242400-8245400	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr8:8242600-8244400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:8242600-8244400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:8242600-8244400	Active TSS	Fetal Intestine Large	intestine
42	chr8:8242600-8244600	Active TSS	Aorta	Aorta
43	chr8:8242600-8244800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:8242600-8244800	Active TSS	Fetal Intestine Small	intestine
45	chr8:8242800-8244400	Active TSS	Gastric	stomach
46	chr8:8242800-8244400	Active TSS	NHEK	skin
47	chr8:8242800-8244600	Active TSS	Fetal Lung	lung
48	chr8:8242800-8244800	Active TSS	Brain Angular Gyrus	brain
49	chr8:8243000-8244200	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr8:8243000-8244400	Active TSS	Brain Germinal Matrix	brain

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