Variant report

Variant	rs11998727
Chromosome Location	chr8:86019019-86019020
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	RELA	chr8:86018831-86020095	GM10847	blood:	n/a	n/a
2	POLR2A	chr8:86018786-86020294	PBDE	blood:	n/a	n/a
3	STAT3	chr8:86018885-86019471	MCF10A-Er-Src	breast:	n/a	n/a
4	RCOR1	chr8:86018806-86019546	GM12878	blood:	n/a	n/a
5	POU2F2	chr8:86018988-86019483	GM12878	blood:	n/a	n/a
6	MAX	chr8:86018965-86019903	A549	lung:	n/a	n/a
7	MAZ	chr8:86018968-86020505	K562	blood:	n/a	n/a
8	KAP1	chr8:86018870-86020277	HEK293	kidney:	n/a	n/a
9	POLR2A	chr8:86018899-86020233	GM19099	blood:	n/a	n/a
10	POLR2A	chr8:86018961-86019918	GM12892	blood:	n/a	n/a
11	MAX	chr8:86018810-86020215	HCT-116	colon:	n/a	n/a
12	MAX	chr8:86019004-86020027	NB4	blood:	n/a	n/a
13	TBL1XR1	chr8:86018856-86019474	K562	blood:	n/a	n/a
14	TBP	chr8:86018929-86019773	GM12878	blood:	n/a	n/a
15	POLR2A	chr8:86018944-86019948	GM12892	blood:	n/a	n/a
16	STAT3	chr8:86018993-86019487	MCF10A-Er-Src	breast:	n/a	n/a
17	BATF	chr8:86018784-86019506	GM12878	blood:	n/a	n/a
18	POLR2A	chr8:86018881-86020003	Hela-S3	cervix:	n/a	n/a
19	REST	chr8:86018943-86019862	HL-60	blood:	n/a	n/a
20	POLR2A	chr8:86018882-86019969	GM18505	blood:	n/a	n/a
21	E2F6	chr8:86018876-86020023	A549	lung:	n/a	chr8:86019377-86019388 chr8:86019380-86019387 chr8:86019376-86019388 chr8:86019716-86019725 chr8:86019380-86019387 chr8:86019380-86019387 chr8:86019828-86019840
22	CREB1	chr8:86018913-86019845	GM12878	blood:	n/a	n/a
23	FOS	chr8:86018937-86019052	MCF10A-Er-Src	breast:	n/a	n/a
24	NFIC	chr8:86018940-86019588	GM12878	blood:	n/a	n/a
25	POLR2A	chr8:86018994-86019019	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr8:86018938-86020134	K562	blood:	n/a	n/a
27	POLR2A	chr8:86019012-86019694	GM12878	blood:	n/a	n/a
28	POLR2A	chr8:86018797-86019865	GM18526	blood:	n/a	n/a
29	POLR2A	chr8:86018685-86020125	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr8:86018622-86020478	SK-N-MC	brain:	n/a	n/a
31	POLR2A	chr8:86018974-86019698	K562	blood:	n/a	n/a
32	POLR2A	chr8:86019011-86019786	HUVEC	blood vessel:	n/a	n/a
33	MAX	chr8:86018920-86020079	HCT-116	colon:	n/a	n/a
34	HCFC1	chr8:86018953-86019796	K562	blood:	n/a	n/a
35	POLR2A	chr8:86018982-86019667	K562	blood:	n/a	n/a
36	POLR2A	chr8:86018864-86019918	U87	brain:	n/a	n/a
37	POLR2A	chr8:86019014-86020011	HL-60	blood:	n/a	n/a
38	GABPA	chr8:86018972-86019753	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr8:86018870-86019890	U87	brain:	n/a	n/a
40	CTCF	chr8:86018960-86019110	GM12872	blood:	n/a	n/a
41	EBF1	chr8:86018988-86019412	GM12878	blood:	n/a	n/a
42	TEAD4	chr8:86018879-86019559	K562	blood:	n/a	n/a
43	MYC	chr8:86018973-86020005	NB4	blood:	n/a	n/a
44	CREB1	chr8:86018962-86019838	HepG2	liver:	n/a	n/a
45	POLR2A	chr8:86018929-86019742	HUVEC	blood vessel:	n/a	n/a
46	PML	chr8:86018959-86019564	K562	blood:	n/a	n/a
47	TRIM28	chr8:86018770-86019552	K562	blood:	n/a	n/a
48	POLR2A	chr8:86019004-86019715	SK-N-SH	brain:	n/a	n/a
49	MAX	chr8:86018984-86020155	ECC-1	luminal epithelium:	n/a	n/a
50	PML	chr8:86018920-86019969	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86016436..86019868-chr8:86087554..86092567,7	K562	blood:

Variant related genes	Relation type
LRRCC1	TF binding region
ENSG00000260493	Chromatin interaction
ENSG00000133740	Chromatin interaction
ENSG00000254208	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11984876	1.00[YRI][hapmap]
rs11988348	1.00[YRI][hapmap]
rs11991468	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs11993595	1.00[YRI][hapmap]
rs11994774	0.90[AFR][1000 genomes]
rs11998639	0.90[AFR][1000 genomes]
rs13279878	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3481417	chr8:85279453-86145229	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3481418	chr8:85279453-86145229	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1033160	chr8:86010643-86030560	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 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	chr8:86018400-86019200	Flanking Active TSS	Dnd41	blood
2	chr8:86018400-86020200	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr8:86018600-86019200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:86018600-86019200	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr8:86018600-86019200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr8:86018600-86019200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr8:86018600-86019200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:86018600-86019200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:86018600-86019200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:86018600-86019200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:86018600-86019200	Active TSS	Brain Germinal Matrix	brain
12	chr8:86018600-86019200	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr8:86018600-86019200	Flanking Active TSS	HUVEC	blood vessel
14	chr8:86018600-86019200	Flanking Active TSS	K562	blood
15	chr8:86018600-86019200	Flanking Active TSS	NHEK	skin
16	chr8:86018600-86019200	Flanking Active TSS	Osteobl	bone
17	chr8:86018600-86019600	Active TSS	Primary T cells fromperipheralblood	blood
18	chr8:86018600-86019800	Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr8:86018600-86019800	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr8:86018600-86019800	Active TSS	Fetal Thymus	thymus
21	chr8:86018600-86020000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr8:86018600-86020000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:86018600-86020000	Active TSS	Muscle Satellite Cultured Cells	--
24	chr8:86018600-86020000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:86018600-86020000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:86018600-86020000	Active TSS	Brain Cingulate Gyrus	brain
27	chr8:86018600-86020000	Active TSS	NHLF	lung
28	chr8:86018600-86020200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:86018600-86020200	Active TSS	Brain Angular Gyrus	brain
30	chr8:86018600-86020200	Active TSS	Fetal Intestine Large	intestine
31	chr8:86018600-86020200	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr8:86018600-86020200	Active TSS	Right Atrium	heart
33	chr8:86018600-86020200	Active TSS	Right Ventricle	heart
34	chr8:86018600-86020200	Active TSS	NHDF-Ad	bronchial
35	chr8:86018600-86020400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:86018600-86020400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:86018600-86020400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:86018600-86020400	Active TSS	Colonic Mucosa	Colon
39	chr8:86018600-86020400	Active TSS	Fetal Brain Male	brain
40	chr8:86018600-86020600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:86018600-86020600	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr8:86018600-86020600	Active TSS	Fetal Brain Female	brain
43	chr8:86018600-86020600	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr8:86018600-86020600	Active TSS	Rectal Smooth Muscle	rectum
45	chr8:86018800-86019200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr8:86018800-86019200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:86018800-86019200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
48	chr8:86018800-86019200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
49	chr8:86018800-86019200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
50	chr8:86018800-86019200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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