Variant report

Variant	rs6988871
Chromosome Location	chr8:126103587-126103588
allele	A/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	TBL1XR1	chr8:126103559-126104497	GM12878	blood:	n/a	n/a
2	PML	chr8:126103460-126104493	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:126103491-126104345	K562	blood:	n/a	n/a
4	SIN3AK20	chr8:126103556-126104288	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr8:126103577-126104364	HepG2	liver:	n/a	n/a
6	POLR2A	chr8:126103431-126104612	GM12891	blood:	n/a	n/a
7	SIX5	chr8:126103381-126104767	A549	lung:	n/a	n/a
8	NR2F2	chr8:126103464-126104433	K562	blood:	n/a	n/a
9	SIN3AK20	chr8:126103302-126104404	K562	blood:	n/a	n/a
10	MXI1	chr8:126102904-126104941	IMR90	lung:	n/a	n/a
11	MAX	chr8:126103530-126104314	H1-hESC	embryonic stem cell:	n/a	chr8:126104055-126104064 chr8:126104019-126104028
12	POLR2A	chr8:126103528-126104413	GM15510	blood:	n/a	n/a
13	TAF1	chr8:126103524-126104387	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr8:126103284-126105069	PBDE	blood:	n/a	n/a
15	TAF1	chr8:126103569-126104381	A549	lung:	n/a	n/a
16	UBTF	chr8:126103513-126104162	K562	blood:	n/a	n/a
17	HMGN3	chr8:126103303-126104312	K562	blood:	n/a	n/a
18	POLR2A	chr8:126103564-126104380	GM18951	blood:	n/a	n/a
19	ELF1	chr8:126103307-126104622	HCT-116	colon:	n/a	chr8:126103906-126103918
20	USF1	chr8:126103461-126104553	SK-N-SH	brain:	n/a	chr8:126104054-126104065
21	MXI1	chr8:126103029-126104965	SK-N-SH	brain:	n/a	n/a
22	IRF1	chr8:126103431-126104413	K562	blood:	n/a	chr8:126103532-126103544 chr8:126103533-126103547 chr8:126103532-126103544 chr8:126103533-126103543 chr8:126103529-126103543 chr8:126104099-126104111
23	POLR2A	chr8:126103388-126104445	GM19193	blood:	n/a	n/a
24	POLR2A	chr8:126103425-126104397	Raji	blood:	n/a	n/a
25	SIN3AK20	chr8:126103078-126104886	MCF-7	breast:	n/a	n/a
26	RCOR1	chr8:126103178-126104210	K562	blood:	n/a	n/a
27	MYC	chr8:126103230-126104291	K562	blood:	n/a	chr8:126104055-126104064 chr8:126104019-126104028
28	POLR2A	chr8:126103487-126104406	GM18505	blood:	n/a	n/a
29	MAX	chr8:126103222-126104879	Hela-S3	cervix:	n/a	chr8:126104784-126104794 chr8:126104055-126104064 chr8:126104019-126104028
30	ZBTB7A	chr8:126103578-126104407	ECC-1	luminal epithelium:	n/a	n/a
31	MAZ	chr8:126103531-126104540	IMR90	lung:	n/a	chr8:126104055-126104064 chr8:126104019-126104028
32	USF1	chr8:126103535-126104456	ECC-1	luminal epithelium:	n/a	chr8:126104054-126104065
33	MAX	chr8:126103561-126104325	NB4	blood:	n/a	chr8:126104055-126104064 chr8:126104019-126104028
34	MAX	chr8:126103513-126104290	SK-N-SH	brain:	n/a	chr8:126104055-126104064 chr8:126104019-126104028
35	MAX	chr8:126103377-126104525	A549	lung:	n/a	chr8:126104055-126104064 chr8:126104019-126104028
36	MAZ	chr8:126103397-126104470	K562	blood:	n/a	chr8:126104055-126104064 chr8:126104019-126104028
37	MTA3	chr8:126103464-126104477	GM12878	blood:	n/a	n/a
38	POLR2A	chr8:126103554-126104495	K562	blood:	n/a	n/a
39	REST	chr8:126103490-126104642	H1-neurons	neurons:	n/a	n/a
40	HCFC1	chr8:126102270-126105465	Hela-S3	cervix:	n/a	n/a
41	CHD1	chr8:126103506-126104515	GM12878	blood:	n/a	n/a
42	USF1	chr8:126103331-126104610	HCT-116	colon:	n/a	chr8:126104054-126104065
43	GABPA	chr8:126103458-126104573	MCF-7	breast:	n/a	chr8:126103878-126103892 chr8:126103875-126103889 chr8:126103878-126103889 chr8:126103902-126103911
44	POLR2A	chr8:126103427-126104423	GM19099	blood:	n/a	n/a
45	POLR2A	chr8:126103572-126104345	U87	brain:	n/a	n/a
46	HA-E2F1	chr8:126103179-126104490	MCF-7	breast:	n/a	chr8:126103879-126103888
47	PML	chr8:126103584-126104416	MCF-7	breast:	n/a	n/a
48	POLR2A	chr8:126103458-126104658	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr8:126103482-126104586	HepG2	liver:	n/a	n/a
50	MAX	chr8:126103573-126104372	A549	lung:	n/a	chr8:126104055-126104064 chr8:126104019-126104028

No.	Distal block	Cell Line	Cell type
1	chr12:120729365..120731964-chr8:126101720..126104275,2	MCF-7	breast:
2	chr8:125826373..125828748-chr8:126103559..126105908,3	K562	blood:
3	chr8:125547520..125551844-chr8:126101419..126105683,3	MCF-7	breast:
4	chr8:126100915..126106135-chr8:126441974..126444669,8	MCF-7	breast:
5	chr8:126093925..126097720-chr8:126099052..126104024,5	MCF-7	breast:
6	chr2:241499998..241500585-chr8:126103535..126104092,2	Hela-S3	cervix:
7	chr8:126010080..126012320-chr8:126100351..126105467,4	MCF-7	breast:
8	chr8:126095296..126097801-chr8:126101628..126103639,2	K562	blood:
9	chr8:125825929..125828748-chr8:126103559..126105908,4	K562	blood:
10	chr8:126101740..126106410-chr8:126441508..126444796,5	MCF-7	breast:
11	chr8:126094932..126099483-chr8:126100368..126105771,7	K562	blood:

Variant related genes	Relation type
NSMCE2	TF binding region
ENSG00000104549	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000255491	Chromatin interaction
ENSG00000164961	Chromatin interaction
ENSG00000173334	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000188542	Chromatin interaction
ENSG00000144504	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000253513	Chromatin interaction
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12056336	1.00[CEU][hapmap]
rs12679295	1.00[CEU][hapmap]
rs12681565	1.00[CEU][hapmap]
rs12682185	1.00[CEU][hapmap]
rs16900457	1.00[CEU][hapmap]
rs16900461	1.00[CEU][hapmap]
rs6987612	0.89[EUR][1000 genomes]
rs6988747	1.00[CEU][hapmap]
rs6992545	1.00[CEU][hapmap]
rs6997136	1.00[CEU][hapmap]
rs6997862	1.00[CEU][hapmap]
rs7002224	1.00[CEU][hapmap]
rs7014707	1.00[CEU][hapmap]
rs73704529	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7823372	1.00[CEU][hapmap]
rs7827336	1.00[CEU][hapmap]
rs7833463	1.00[CEU][hapmap]
rs7837996	1.00[CEU][hapmap]
rs7844453	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv465803	chr8:126068197-126132816	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
6	nsv612148	chr8:126068197-126132816	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126102400-126103600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr8:126102400-126103600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:126102400-126103800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:126102400-126104600	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr8:126102400-126104600	Active TSS	Brain Substantia Nigra	brain
6	chr8:126102400-126104800	Active TSS	Sigmoid Colon	Sigmoid Colon
7	chr8:126102400-126105400	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr8:126102600-126103600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr8:126102600-126103600	Flanking Active TSS	HUVEC	blood vessel
10	chr8:126102600-126103800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:126102600-126104800	Active TSS	GM12878-XiMat	blood
12	chr8:126102600-126104800	Active TSS	NHDF-Ad	bronchial
13	chr8:126102600-126105000	Active TSS	Right Atrium	heart
14	chr8:126102800-126103600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
15	chr8:126102800-126103600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:126102800-126103600	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr8:126102800-126103600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr8:126102800-126103600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr8:126102800-126103800	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr8:126102800-126103800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr8:126102800-126104600	Active TSS	Fetal Kidney	kidney
22	chr8:126102800-126104600	Active TSS	K562	blood
23	chr8:126102800-126104800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:126102800-126104800	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr8:126102800-126104800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:126102800-126104800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:126102800-126104800	Active TSS	Aorta	Aorta
28	chr8:126102800-126104800	Active TSS	NHLF	lung
29	chr8:126102800-126105000	Active TSS	H1 Cell Line	embryonic stem cell
30	chr8:126102800-126105000	Active TSS	Psoas Muscle	Psoas
31	chr8:126102800-126105200	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr8:126102800-126105600	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr8:126103000-126103600	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr8:126103000-126103600	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr8:126103000-126103600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr8:126103000-126103600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:126103000-126103600	Flanking Active TSS	Liver	Liver
38	chr8:126103000-126103800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr8:126103000-126103800	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr8:126103000-126103800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:126103000-126104600	Active TSS	H9 Cell Line	embryonic stem cell
42	chr8:126103000-126104600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:126103000-126104600	Active TSS	Brain Cingulate Gyrus	brain
44	chr8:126103000-126104600	Active TSS	Esophagus	oesophagus
45	chr8:126103000-126104600	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr8:126103000-126104600	Active TSS	Gastric	stomach
47	chr8:126103000-126104600	Active TSS	Pancreas	Pancrea
48	chr8:126103000-126104800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:126103000-126105000	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr8:126103000-126105000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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