Variant report

Variant	rs188198232
Chromosome Location	chr8:86375764-86375765
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	chr8:86375317-86376565	HL-60	blood:	n/a	n/a
2	RAD21	chr8:86375302-86375777	HepG2	liver:	n/a	chr8:86375566-86375579
3	RAD21	chr8:86375421-86375787	H1-hESC	embryonic stem cell:	n/a	chr8:86375566-86375579
4	RAD21	chr8:86375365-86375895	H1-hESC	embryonic stem cell:	n/a	chr8:86375566-86375579
5	POLR2A	chr8:86375385-86376733	HL-60	blood:	n/a	n/a
6	CTCF	chr8:86375760-86375910	GM12869	blood:	n/a	n/a
7	CTCF	chr8:86375229-86375897	MCF-7	breast:	n/a	chr8:86375565-86375578
8	POLR2A	chr8:86375441-86376677	GM18951	blood:	n/a	n/a
9	ZBTB7A	chr8:86375707-86375869	K562	blood:	n/a	n/a
10	POLR2A	chr8:86375494-86376625	GM19099	blood:	n/a	n/a
11	POLR2A	chr8:86375490-86376505	GM18526	blood:	n/a	n/a
12	MAX	chr8:86375367-86375963	MCF-7	breast:	n/a	n/a
13	EGR1	chr8:86375280-86376499	MCF-7	breast:	n/a	chr8:86376156-86376169
14	NR2F2	chr8:86375230-86376875	MCF-7	breast:	n/a	n/a
15	SMC3	chr8:86375215-86375907	SK-N-SH	brain:	n/a	chr8:86375564-86375578
16	MYBL2	chr8:86375331-86375774	HepG2	liver:	n/a	n/a
17	MAX	chr8:86375234-86375879	A549	lung:	n/a	n/a
18	BACH1	chr8:86375322-86375896	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr8:86375472-86376620	MCF-7	breast:	n/a	n/a
20	RAD21	chr8:86375447-86375774	HepG2	liver:	n/a	chr8:86375566-86375579
21	POLR2A	chr8:86375193-86378490	PBDE	blood:	n/a	n/a
22	TEAD4	chr8:86375400-86375808	H1-hESC	embryonic stem cell:	n/a	n/a
23	RAD21	chr8:86375213-86375851	MCF-7	breast:	n/a	chr8:86375566-86375579
24	PML	chr8:86375359-86376753	MCF-7	breast:	n/a	n/a
25	RAD21	chr8:86375361-86375780	HepG2	liver:	n/a	chr8:86375566-86375579
26	SIN3AK20	chr8:86375078-86377077	MCF-7	breast:	n/a	n/a
27	RAD21	chr8:86375371-86375819	ECC-1	luminal epithelium:	n/a	chr8:86375566-86375579
28	POLR2A	chr8:86375417-86376725	MCF-7	breast:	n/a	n/a
29	CTCF	chr8:86375402-86375780	H1-hESC	embryonic stem cell:	n/a	chr8:86375565-86375578
30	SIN3A	chr8:86375436-86375784	H1-hESC	embryonic stem cell:	n/a	chr8:86375565-86375576
31	MTA3	chr8:86375374-86375843	GM12878	blood:	n/a	n/a
32	RAD21	chr8:86375309-86375821	SK-N-SH	brain:	n/a	chr8:86375566-86375579
33	CTCF	chr8:86375422-86375769	HepG2	liver:	n/a	chr8:86375565-86375578
34	RAD21	chr8:86375340-86375910	A549	lung:	n/a	chr8:86375566-86375579
35	SP1	chr8:86375315-86375780	A549	lung:	n/a	n/a
36	TCF12	chr8:86375350-86375913	ECC-1	luminal epithelium:	n/a	n/a
37	YY1	chr8:86375451-86376020	HepG2	liver:	n/a	chr8:86375903-86375914 chr8:86375814-86375823 chr8:86375605-86375616 chr8:86375865-86375879 chr8:86375814-86375825 chr8:86375825-86375839 chr8:86375809-86375823 chr8:86375817-86375826
38	CHD2	chr8:86375400-86375871	H1-hESC	embryonic stem cell:	n/a	chr8:86375783-86375790
39	BCLAF1	chr8:86375357-86375764	GM12878	blood:	n/a	n/a
40	POLR2A	chr8:86374830-86376721	MCF10A-Er-Src	breast:	n/a	n/a
41	MAX	chr8:86375383-86375817	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr8:86375199-86376031	MCF-7	breast:	n/a	chr8:86375565-86375578
43	RAD21	chr8:86375383-86375781	GM12878	blood:	n/a	chr8:86375566-86375579
44	TCF12	chr8:86375268-86375810	A549	lung:	n/a	n/a
45	NR2F2	chr8:86375337-86376012	MCF-7	breast:	n/a	n/a
46	TCF7L2	chr8:86375435-86377016	HCT-116	colon:	n/a	n/a
47	RAD21	chr8:86375397-86375794	A549	lung:	n/a	chr8:86375566-86375579
48	ZBTB7A	chr8:86375291-86376725	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr8:86375493-86376694	NB4	blood:	n/a	n/a
50	RAD21	chr8:86375136-86376772	HCT-116	colon:	n/a	chr8:86375566-86375579 chr8:86375954-86375967

No.	Distal block	Cell Line	Cell type
1	chr1:144931784..144933992-chr8:86374827..86377261,2	MCF-7	breast:
2	chr8:86348746..86351284-chr8:86374911..86377490,2	MCF-7	breast:
3	chr8:86373793..86376899-chr8:86998896..87001584,3	MCF-7	breast:
4	chr22:36782277..36784307-chr8:86374266..86376495,2	MCF-7	breast:
5	chr8:86375382..86376006-chr8:87045172..87046083,3	MCF-7	breast:
6	chr8:86372229..86378702-chr8:86846475..86858080,32	MCF-7	breast:
7	chr8:86373353..86377706-chr8:86848632..86856784,15	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CA1-1	chr8:86375661-86375942	NONHSAT127529

Variant related genes	Relation type
ENSG00000253549	TF binding region
CA2	TF binding region
ENSG00000147614	Chromatin interaction
ENSG00000164879	Chromatin interaction
ENSG00000100345	Chromatin interaction
ENSG00000178104	Chromatin interaction
ENSG00000253154	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022463	chr8:86257031-86547831	Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv831377	chr8:86263107-86444141	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1028148	chr8:86310570-86553130	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv2761206	chr8:86310582-86468868	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv3361413	chr8:86374200-86377398	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3394177	chr8:86374925-86377473	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3408824	chr8:86375225-86378073	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86375200-86375800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:86375200-86376200	Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr8:86375200-86376400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:86375200-86376400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:86375200-86376600	Active TSS	Colon Smooth Muscle	Colon
6	chr8:86375200-86376600	Active TSS	A549	lung
7	chr8:86375200-86376800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:86375200-86376800	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr8:86375200-86377000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr8:86375200-86377200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr8:86375200-86377800	Active TSS	Stomach Smooth Muscle	stomach
12	chr8:86375200-86378000	Active TSS	Rectal Smooth Muscle	rectum
13	chr8:86375200-86380200	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr8:86375400-86375800	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr8:86375400-86375800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr8:86375400-86375800	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr8:86375400-86375800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr8:86375400-86375800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:86375400-86375800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:86375400-86375800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:86375400-86375800	Flanking Active TSS	Fetal Muscle Trunk	muscle
22	chr8:86375400-86376000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
23	chr8:86375400-86376000	Active TSS	Brain Germinal Matrix	brain
24	chr8:86375400-86376000	Active TSS	Hela-S3	cervix
25	chr8:86375400-86376200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr8:86375400-86376200	Active TSS	Fetal Brain Female	brain
27	chr8:86375400-86376400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:86375400-86376400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:86375400-86376400	Active TSS	Primary hematopoietic stem cells	blood
30	chr8:86375400-86376600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:86375400-86376600	Active TSS	Muscle Satellite Cultured Cells	--
32	chr8:86375400-86376600	Active TSS	HSMM	muscle
33	chr8:86375400-86376600	Active TSS	Osteobl	bone
34	chr8:86375400-86376800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:86375400-86376800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:86375400-86376800	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr8:86375400-86376800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:86375400-86376800	Active TSS	Ovary	ovary
39	chr8:86375400-86376800	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr8:86375400-86376800	Active TSS	HepG2	liver
41	chr8:86375400-86376800	Active TSS	NHEK	skin
42	chr8:86375400-86377000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:86375400-86377000	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr8:86375400-86377000	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr8:86375400-86377000	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr8:86375400-86377000	Active TSS	Fetal Kidney	kidney
47	chr8:86375400-86377200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:86375400-86377200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:86375400-86377200	Bivalent/Poised TSS	Thymus	Thymus
50	chr8:86375400-86377400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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