Variant report

Variant	rs4841556
Chromosome Location	chr8:11411543-11411544
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	CTCF	chr8:11411324-11411552	MCF-7	breast:	n/a	chr8:11411435-11411444
2	ATF2	chr8:11411191-11411587	GM12878	blood:	n/a	n/a
3	CTCF	chr8:11411300-11411571	HUVEC	blood vessel:	n/a	chr8:11411435-11411444
4	MYC	chr8:11411279-11411581	K562	blood:	n/a	n/a
5	YY1	chr8:11411120-11411666	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr8:11411299-11411576	Kidney_OC	kidney:	n/a	chr8:11411435-11411444
7	CTCF	chr8:11411291-11411609	LNCaP	prostate:	n/a	chr8:11411435-11411444
8	JUND	chr8:11411365-11411616	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr8:11411167-11411627	K562	blood:	n/a	chr8:11411435-11411444
10	CTCF	chr8:11411194-11411635	A549	lung:	n/a	chr8:11411435-11411444
11	CTCF	chr8:11411307-11411582	H1-hESC	embryonic stem cell:	n/a	chr8:11411435-11411444
12	NANOG	chr8:11411301-11411583	H1-hESC	embryonic stem cell:	n/a	n/a
13	MXI1	chr8:11411302-11411606	GM12878	blood:	n/a	n/a
14	CTCF	chr8:11411249-11411594	ECC-1	luminal epithelium:	n/a	chr8:11411435-11411444
15	POU2F2	chr8:11411028-11411605	GM12878	blood:	n/a	chr8:11411217-11411229
16	BHLHE40	chr8:11411273-11411560	GM12878	blood:	n/a	n/a
17	RAD21	chr8:11411069-11411633	H1-hESC	embryonic stem cell:	n/a	chr8:11411431-11411441
18	SMC3	chr8:11411258-11411624	HepG2	liver:	n/a	chr8:11411431-11411445
19	CTCF	chr8:11411013-11412003	A549	lung:	n/a	chr8:11411435-11411444
20	RAD21	chr8:11411112-11411609	MCF-7	breast:	n/a	chr8:11411431-11411441
21	CTCF	chr8:11411273-11411696	MCF-7	breast:	n/a	chr8:11411435-11411444
22	RAD21	chr8:11411007-11411848	HCT-116	colon:	n/a	chr8:11411431-11411441
23	CTCF	chr8:11411304-11411559	SK-N-SH_RA	brain:	n/a	chr8:11411435-11411444
24	CTCF	chr8:11411293-11411623	T-47D	breast:	n/a	chr8:11411435-11411444
25	CTCF	chr8:11411298-11411604	T-47D	breast:	n/a	chr8:11411435-11411444
26	SMC3	chr8:11411239-11411632	Hela-S3	cervix:	n/a	chr8:11411431-11411445
27	RAD21	chr8:11411201-11411678	IMR90	lung:	n/a	chr8:11411431-11411441
28	CCNT2	chr8:11411392-11411579	K562	blood:	n/a	chr8:11411554-11411563
29	MAZ	chr8:11411388-11411543	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr8:11411305-11411589	Fibrobl	skin:	n/a	chr8:11411435-11411444
31	CTCF	chr8:11411246-11411585	GM19239	blood:	n/a	chr8:11411435-11411444
32	CREB1	chr8:11411336-11411593	A549	lung:	n/a	n/a
33	POLR2A	chr8:11411023-11412299	GM12878	blood:	n/a	n/a
34	MXI1	chr8:11411259-11411552	H1-hESC	embryonic stem cell:	n/a	n/a
35	RAD21	chr8:11411183-11411742	ECC-1	luminal epithelium:	n/a	chr8:11411431-11411441
36	CTCF	chr8:11411320-11411564	Hela-S3	cervix:	n/a	chr8:11411435-11411444
37	CTCF	chr8:11411331-11411561	GM13976	blood:	n/a	chr8:11411435-11411444
38	RAD21	chr8:11411221-11411606	H1-hESC	embryonic stem cell:	n/a	chr8:11411431-11411441
39	CTCF	chr8:11411070-11411809	HCT-116	colon:	n/a	chr8:11411435-11411444
40	MAX	chr8:11411243-11411596	NB4	blood:	n/a	n/a
41	MAZ	chr8:11411232-11411676	GM12878	blood:	n/a	n/a
42	CTCF	chr8:11410651-11412046	SK-N-SH	brain:	n/a	chr8:11411435-11411444
43	CTCF	chr8:11411420-11411570	A549	lung:	n/a	chr8:11411435-11411444
44	CTCF	chr8:11411276-11411597	GM19240	blood:	n/a	chr8:11411435-11411444
45	CTCF	chr8:11411222-11411680	GM12878	blood:	n/a	chr8:11411435-11411444
46	BACH1	chr8:11411316-11411548	H1-hESC	embryonic stem cell:	n/a	n/a
47	USF2	chr8:11411188-11411744	GM12878	blood:	n/a	n/a
48	POLR2A	chr8:11411159-11411572	GM12878	blood:	n/a	n/a
49	STAT5A	chr8:11411212-11411622	GM12878	blood:	n/a	chr8:11411221-11411233
50	RAD21	chr8:11411209-11411648	HepG2	liver:	n/a	chr8:11411431-11411441

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11411028..11411558-chr8:11446874..11447601,2	K562	blood:
2	chr8:11410226..11416148-chr8:11417699..11422629,5	K562	blood:

Variant related genes	Relation type
ENSG00000269954	TF binding region
ENSG00000136573	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11786737	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17744726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841554	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active 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	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv520117	chr8:11391650-11429147	Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv465466	chr8:11391650-11429147	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv610289	chr8:11391650-11429147	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active 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
9	nsv465467	chr8:11391650-11430485	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv610290	chr8:11391650-11430485	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv2761407	chr8:11392880-11429147	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1029589	chr8:11392880-11429147	ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1026837	chr8:11394466-11464127	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1018959	chr8:11395232-11455756	Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv890358	chr8:11396856-11448738	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv1033629	chr8:11401789-11466745	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	esv3429502	chr8:11408343-11412741	Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv523827	chr8:11408401-11486220	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4841556	BLK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11404600-11418400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:11404800-11421800	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr8:11406000-11417600	Genic enhancers	Primary B cells from cord blood	blood
4	chr8:11407800-11412000	Genic enhancers	GM12878-XiMat	blood
5	chr8:11407800-11412200	Weak transcription	HUVEC	blood vessel
6	chr8:11409600-11412800	Weak transcription	Spleen	Spleen
7	chr8:11409800-11414600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:11410400-11411600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:11410400-11419600	Enhancers	Fetal Thymus	thymus
10	chr8:11410600-11415000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:11410800-11411600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr8:11410800-11411600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:11410800-11411600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:11410800-11413000	Weak transcription	Dnd41	blood
15	chr8:11411000-11411600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:11411000-11411600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:11411000-11411600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr8:11411000-11411600	Bivalent Enhancer	Fetal Brain Male	brain
19	chr8:11411000-11411600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr8:11411200-11411600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr8:11411200-11411600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:11411200-11411600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:11411200-11411600	Bivalent Enhancer	Brain Germinal Matrix	brain
24	chr8:11411200-11411600	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr8:11411200-11411600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr8:11411200-11411600	Bivalent Enhancer	Thymus	Thymus
27	chr8:11411200-11411800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:11411200-11411800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:11411200-11411800	Enhancers	Fetal Heart	heart
30	chr8:11411200-11412000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:11411400-11411600	Bivalent Enhancer	Fetal Intestine Small	intestine
32	chr8:11411400-11411600	Bivalent Enhancer	Fetal Stomach	stomach
33	chr8:11411400-11411800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:11411400-11414000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr8:11411400-11414400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr8:11411400-11415600	Weak transcription	HSMM	muscle

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