Variant report

Variant	rs7842981
Chromosome Location	chr8:19615131-19615132
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	TCF12	chr8:19614811-19616510	A549	lung:	n/a	n/a
2	RAD21	chr8:19615124-19615814	A549	lung:	n/a	n/a
3	POLR2A	chr8:19615108-19615282	MCF-7	breast:	n/a	n/a
4	SMC3	chr8:19615110-19615723	SK-N-SH	brain:	n/a	n/a
5	CREB1	chr8:19614422-19615167	A549	lung:	n/a	n/a
6	REST	chr8:19615053-19615771	A549	lung:	n/a	chr8:19615237-19615250
7	RAD21	chr8:19615124-19615713	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAFK	chr8:19615065-19615717	Hela-S3	cervix:	n/a	n/a
9	MAX	chr8:19612923-19615860	A549	lung:	n/a	chr8:19614299-19614306
10	MAZ	chr8:19615095-19615606	K562	blood:	n/a	n/a
11	CREB1	chr8:19614773-19615223	H1-hESC	embryonic stem cell:	n/a	n/a
12	MXI1	chr8:19614990-19615596	Hela-S3	cervix:	n/a	n/a
13	MAX	chr8:19614905-19615797	A549	lung:	n/a	n/a
14	RCOR1	chr8:19615042-19615739	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr8:19615077-19615605	A549	lung:	n/a	n/a
16	RAD21	chr8:19615049-19615793	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr8:19613998-19615650	A549	lung:	n/a	n/a
18	POLR2A	chr8:19614445-19615897	IMR90	lung:	n/a	n/a
19	FOSL2	chr8:19615016-19615613	A549	lung:	n/a	chr8:19615091-19615105
20	BACH1	chr8:19615015-19615572	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr8:19614525-19615704	SK-N-SH	brain:	n/a	chr8:19614729-19614742 chr8:19615513-19615526 chr8:19614661-19614674
22	SMC3	chr8:19615041-19615736	Hela-S3	cervix:	n/a	n/a
23	TBP	chr8:19615042-19615655	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr8:19613788-19615706	Hela-S3	cervix:	n/a	n/a
25	SP1	chr8:19615051-19615783	A549	lung:	n/a	n/a
26	SIN3AK20	chr8:19615112-19615581	A549	lung:	n/a	n/a
27	CHD2	chr8:19613887-19615748	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr8:19614272-19616595	A549	lung:	n/a	chr8:19614729-19614742 chr8:19615513-19615526 chr8:19615938-19615946 chr8:19615985-19615994 chr8:19614487-19614500 chr8:19614446-19614459 chr8:19614661-19614674 chr8:19614443-19614461
29	CTBP2	chr8:19613919-19615780	H1-hESC	embryonic stem cell:	n/a	n/a
30	SMARCB1	chr8:19614035-19615908	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr8:19615043-19615946	A549	lung:	n/a	n/a
32	MAZ	chr8:19614463-19615654	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr8:19615071-19615152	K562	blood:	n/a	n/a
34	BHLHE40	chr8:19615130-19615518	K562	blood:	n/a	n/a
35	POLR2A	chr8:19614950-19615553	A549	lung:	n/a	n/a
36	BCL3	chr8:19615043-19615926	A549	lung:	n/a	n/a
37	MXI1	chr8:19613581-19615763	IMR90	lung:	n/a	n/a
38	HCFC1	chr8:19615081-19615550	K562	blood:	n/a	n/a
39	CTCF	chr8:19615102-19615647	IMR90	lung:	n/a	chr8:19615513-19615526
40	HA-E2F1	chr8:19614056-19615274	Hela-S3	cervix:	n/a	chr8:19614916-19614926 chr8:19614888-19614898
41	ZNF143	chr8:19615020-19615699	H1-hESC	embryonic stem cell:	n/a	n/a
42	ETS1	chr8:19615082-19615665	A549	lung:	n/a	n/a
43	POLR2A	chr8:19614079-19615717	Hela-S3	cervix:	n/a	n/a
44	SIN3AK20	chr8:19614835-19615142	PANC-1	pancreas:	n/a	n/a
45	MYC	chr8:19615119-19615685	NB4	blood:	n/a	n/a
46	POLR2A	chr8:19615071-19615627	A549	lung:	n/a	n/a
47	UBTF	chr8:19614597-19615682	K562	blood:	n/a	n/a
48	MAX	chr8:19613513-19615692	Hela-S3	cervix:	n/a	chr8:19614299-19614306
49	SP1	chr8:19615009-19615789	A549	lung:	n/a	n/a
50	POLR2A	chr8:19613834-19615769	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19497421..19499586-chr8:19613571..19616001,2	MCF-7	breast:
2	chr8:19534323..19537317-chr8:19613839..19616648,2	MCF-7	breast:

Variant related genes	Relation type
CSGALNACT1	TF binding region
ENSG00000253270	Chromatin interaction
ENSG00000147408	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12114668	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7827643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7838610	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription 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 miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1021731	chr8:19515149-19643313	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv3343914	chr8:19613297-19615845	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3443741	chr8:19613697-19616545	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3417669	chr8:19613772-19616120	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr8:19612600-19615200	Active TSS	Brain Anterior Caudate	brain
2	chr8:19612600-19615600	Active TSS	A549	lung
3	chr8:19613000-19616000	Active TSS	Brain Hippocampus Middle	brain
4	chr8:19613200-19615200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:19613200-19615200	Active TSS	Placenta	Placenta
6	chr8:19613200-19615800	Active TSS	Right Atrium	heart
7	chr8:19613200-19616400	Active TSS	Brain Substantia Nigra	brain
8	chr8:19613400-19615200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
9	chr8:19613400-19615400	Active TSS	Gastric	stomach
10	chr8:19613400-19615600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr8:19613400-19615600	Active TSS	Left Ventricle	heart
12	chr8:19613400-19615600	Active TSS	Right Ventricle	heart
13	chr8:19613400-19615800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr8:19613400-19615800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
15	chr8:19613600-19615200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:19613600-19615400	Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr8:19613600-19615800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:19613600-19615800	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr8:19613600-19615800	Active TSS	Osteobl	bone
20	chr8:19613800-19615200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
21	chr8:19613800-19615200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:19613800-19615200	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr8:19613800-19615200	Active TSS	Placenta Amnion	Placenta Amnion
24	chr8:19613800-19615400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:19613800-19615600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
26	chr8:19613800-19615600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:19613800-19615600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr8:19613800-19615600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
29	chr8:19613800-19615800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr8:19613800-19615800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr8:19613800-19615800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr8:19613800-19615800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr8:19614000-19615200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:19614000-19615200	Bivalent/Poised TSS	Fetal Brain Female	brain
35	chr8:19614000-19615200	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr8:19614000-19615400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:19614000-19615400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:19614000-19615400	Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr8:19614000-19615400	Active TSS	Primary T cells from cord blood	blood
40	chr8:19614000-19615400	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr8:19614000-19615400	Active TSS	Aorta	Aorta
42	chr8:19614000-19615400	Active TSS	Hela-S3	cervix
43	chr8:19614000-19615600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr8:19614000-19615600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:19614000-19615600	Active TSS	Colon Smooth Muscle	Colon
46	chr8:19614000-19615600	Active TSS	Fetal Kidney	kidney
47	chr8:19614000-19615600	Active TSS	Lung	lung
48	chr8:19614000-19615800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:19614000-19615800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr8:19614000-19616000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell

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