Variant report

Variant	rs529147093
Chromosome Location	chr8:86375877-86375878
allele	C/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	chr8:86375780-86375930	GM12874	blood:	n/a	n/a
2	POLR2A	chr8:86375317-86376565	HL-60	blood:	n/a	n/a
3	RAD21	chr8:86375365-86375895	H1-hESC	embryonic stem cell:	n/a	chr8:86375566-86375579
4	POLR2A	chr8:86375385-86376733	HL-60	blood:	n/a	n/a
5	CTCF	chr8:86375760-86375910	GM12869	blood:	n/a	n/a
6	CTCF	chr8:86375229-86375897	MCF-7	breast:	n/a	chr8:86375565-86375578
7	POLR2A	chr8:86375441-86376677	GM18951	blood:	n/a	n/a
8	POLR2A	chr8:86375494-86376625	GM19099	blood:	n/a	n/a
9	POLR2A	chr8:86375490-86376505	GM18526	blood:	n/a	n/a
10	MAX	chr8:86375367-86375963	MCF-7	breast:	n/a	n/a
11	EGR1	chr8:86375280-86376499	MCF-7	breast:	n/a	chr8:86376156-86376169
12	NR2F2	chr8:86375230-86376875	MCF-7	breast:	n/a	n/a
13	SMC3	chr8:86375215-86375907	SK-N-SH	brain:	n/a	chr8:86375564-86375578
14	MAX	chr8:86375234-86375879	A549	lung:	n/a	n/a
15	BACH1	chr8:86375322-86375896	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr8:86375472-86376620	MCF-7	breast:	n/a	n/a
17	POLR2A	chr8:86375193-86378490	PBDE	blood:	n/a	n/a
18	PML	chr8:86375359-86376753	MCF-7	breast:	n/a	n/a
19	SIN3AK20	chr8:86375078-86377077	MCF-7	breast:	n/a	n/a
20	POLR2A	chr8:86375771-86376494	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr8:86375808-86376626	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr8:86375417-86376725	MCF-7	breast:	n/a	n/a
23	RAD21	chr8:86375340-86375910	A549	lung:	n/a	chr8:86375566-86375579
24	MYC	chr8:86375799-86375908	MCF-7	breast:	n/a	n/a
25	TCF12	chr8:86375350-86375913	ECC-1	luminal epithelium:	n/a	n/a
26	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
27	POLR2A	chr8:86374830-86376721	MCF10A-Er-Src	breast:	n/a	n/a
28	CTCF	chr8:86375199-86376031	MCF-7	breast:	n/a	chr8:86375565-86375578
29	NR2F2	chr8:86375337-86376012	MCF-7	breast:	n/a	n/a
30	TCF7L2	chr8:86375435-86377016	HCT-116	colon:	n/a	n/a
31	ZBTB7A	chr8:86375291-86376725	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr8:86375493-86376694	NB4	blood:	n/a	n/a
33	RAD21	chr8:86375136-86376772	HCT-116	colon:	n/a	chr8:86375566-86375579 chr8:86375954-86375967
34	TAF1	chr8:86375378-86376481	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr8:86375456-86376574	ProgFib	skin:	n/a	n/a
36	FOXP2	chr8:86375447-86375942	PFSK-1	brain:	n/a	n/a
37	CHD2	chr8:86375451-86375973	Hela-S3	cervix:	n/a	chr8:86375783-86375790
38	GATA3	chr8:86375264-86377221	MCF-7	breast:	n/a	n/a
39	MAX	chr8:86375287-86377225	MCF-7	breast:	n/a	n/a
40	ELF1	chr8:86375361-86376733	MCF-7	breast:	n/a	chr8:86376583-86376592 chr8:86375817-86375826 chr8:86376509-86376521 chr8:86376257-86376266
41	RAD21	chr8:86375185-86376035	MCF-7	breast:	n/a	chr8:86375566-86375579 chr8:86375954-86375967
42	ELF1	chr8:86375370-86376006	GM12878	blood:	n/a	chr8:86375817-86375826
43	HDAC2	chr8:86375199-86377158	MCF-7	breast:	n/a	n/a
44	MYC	chr8:86375393-86375977	NB4	blood:	n/a	n/a
45	RAD21	chr8:86375268-86376708	H1-hESC	embryonic stem cell:	n/a	chr8:86375566-86375579 chr8:86375954-86375967
46	CTCF	chr8:86375277-86375926	SK-N-SH	brain:	n/a	chr8:86375565-86375578
47	CTCF	chr8:86375410-86375900	K562	blood:	n/a	chr8:86375565-86375578
48	CTCF	chr8:86375413-86375892	HCT-116	colon:	n/a	chr8:86375565-86375578
49	ZBTB7A	chr8:86375414-86376765	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr8:86375398-86376777	MCF-7	breast:	n/a	n/a

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
CA2	TF binding region
ENSG00000253549	TF binding region
ENSG00000100345	Chromatin interaction
ENSG00000164879	Chromatin interaction
ENSG00000253154	Chromatin interaction
ENSG00000147614	Chromatin interaction
ENSG00000178104	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86375200-86376200	Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr8:86375200-86376400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:86375200-86376400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:86375200-86376600	Active TSS	Colon Smooth Muscle	Colon
5	chr8:86375200-86376600	Active TSS	A549	lung
6	chr8:86375200-86376800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:86375200-86376800	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr8:86375200-86377000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr8:86375200-86377200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr8:86375200-86377800	Active TSS	Stomach Smooth Muscle	stomach
11	chr8:86375200-86378000	Active TSS	Rectal Smooth Muscle	rectum
12	chr8:86375200-86380200	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr8:86375400-86376000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
14	chr8:86375400-86376000	Active TSS	Brain Germinal Matrix	brain
15	chr8:86375400-86376000	Active TSS	Hela-S3	cervix
16	chr8:86375400-86376200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr8:86375400-86376200	Active TSS	Fetal Brain Female	brain
18	chr8:86375400-86376400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:86375400-86376400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:86375400-86376400	Active TSS	Primary hematopoietic stem cells	blood
21	chr8:86375400-86376600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:86375400-86376600	Active TSS	Muscle Satellite Cultured Cells	--
23	chr8:86375400-86376600	Active TSS	HSMM	muscle
24	chr8:86375400-86376600	Active TSS	Osteobl	bone
25	chr8:86375400-86376800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:86375400-86376800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:86375400-86376800	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr8:86375400-86376800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:86375400-86376800	Active TSS	Ovary	ovary
30	chr8:86375400-86376800	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr8:86375400-86376800	Active TSS	HepG2	liver
32	chr8:86375400-86376800	Active TSS	NHEK	skin
33	chr8:86375400-86377000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:86375400-86377000	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr8:86375400-86377000	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr8:86375400-86377000	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr8:86375400-86377000	Active TSS	Fetal Kidney	kidney
38	chr8:86375400-86377200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:86375400-86377200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr8:86375400-86377200	Bivalent/Poised TSS	Thymus	Thymus
41	chr8:86375400-86377400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:86375400-86377400	Active TSS	Brain Substantia Nigra	brain
43	chr8:86375400-86377600	Active TSS	Psoas Muscle	Psoas
44	chr8:86375400-86377800	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr8:86375400-86378600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:86375400-86378800	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr8:86375400-86380000	Active TSS	Brain Anterior Caudate	brain
48	chr8:86375400-86380000	Active TSS	Brain Cingulate Gyrus	brain
49	chr8:86375400-86380000	Active TSS	Brain Hippocampus Middle	brain
50	chr8:86375400-86380000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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