Variant report

Variant	rs191828008
Chromosome Location	chr8:86375307-86375308
allele	G/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	RAD21	chr8:86375302-86375777	HepG2	liver:	n/a	chr8:86375566-86375579
2	CTCF	chr8:86375229-86375897	MCF-7	breast:	n/a	chr8:86375565-86375578
3	ATF2	chr8:86375277-86375647	GM12878	blood:	n/a	n/a
4	HDAC2	chr8:86375264-86375732	MCF-7	breast:	n/a	n/a
5	EGR1	chr8:86375280-86376499	MCF-7	breast:	n/a	chr8:86376156-86376169
6	NR2F2	chr8:86375230-86376875	MCF-7	breast:	n/a	n/a
7	SMC3	chr8:86375215-86375907	SK-N-SH	brain:	n/a	chr8:86375564-86375578
8	MAX	chr8:86375234-86375879	A549	lung:	n/a	n/a
9	POLR2A	chr8:86375193-86378490	PBDE	blood:	n/a	n/a
10	RAD21	chr8:86375213-86375851	MCF-7	breast:	n/a	chr8:86375566-86375579
11	SIN3AK20	chr8:86375078-86377077	MCF-7	breast:	n/a	n/a
12	ELF1	chr8:86375305-86375699	K562	blood:	n/a	n/a
13	SPI1	chr8:86375249-86375755	HL-60	blood:	n/a	n/a
14	POLR2A	chr8:86374830-86376721	MCF10A-Er-Src	breast:	n/a	n/a
15	CTCF	chr8:86375199-86376031	MCF-7	breast:	n/a	chr8:86375565-86375578
16	TCF12	chr8:86375268-86375810	A549	lung:	n/a	n/a
17	ZBTB7A	chr8:86375291-86376725	ECC-1	luminal epithelium:	n/a	n/a
18	RAD21	chr8:86375136-86376772	HCT-116	colon:	n/a	chr8:86375566-86375579 chr8:86375954-86375967
19	GATA3	chr8:86375264-86377221	MCF-7	breast:	n/a	n/a
20	MAX	chr8:86375287-86377225	MCF-7	breast:	n/a	n/a
21	RAD21	chr8:86375185-86376035	MCF-7	breast:	n/a	chr8:86375566-86375579 chr8:86375954-86375967
22	HDAC2	chr8:86375199-86377158	MCF-7	breast:	n/a	n/a
23	RAD21	chr8:86375268-86376708	H1-hESC	embryonic stem cell:	n/a	chr8:86375566-86375579 chr8:86375954-86375967
24	CTCF	chr8:86375277-86375926	SK-N-SH	brain:	n/a	chr8:86375565-86375578
25	MAX	chr8:86375290-86375819	ECC-1	luminal epithelium:	n/a	n/a
26	CTCF	chr8:86375106-86375928	A549	lung:	n/a	chr8:86375565-86375578
27	CTCF	chr8:86375302-86375743	T-47D	breast:	n/a	chr8:86375565-86375578
28	RAD21	chr8:86375195-86376592	HCT-116	colon:	n/a	chr8:86375566-86375579 chr8:86375954-86375967
29	MAX	chr8:86375273-86375821	ECC-1	luminal epithelium:	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	chr8:86372229..86378702-chr8:86846475..86858080,32	MCF-7	breast:
6	chr8:86373353..86377706-chr8:86848632..86856784,15	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CA1-1	chr8:86375161-86375671	NONHSAT127527

Variant related genes	Relation type
ENSG00000253549	TF binding region
CA2	TF binding region
ENSG00000178104	Chromatin interaction
ENSG00000147614	Chromatin interaction
ENSG00000253154	Chromatin interaction
ENSG00000164879	Chromatin interaction
ENSG00000100345	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86354400-86375400	Weak transcription	Psoas Muscle	Psoas
2	chr8:86358400-86375600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:86367600-86375600	Weak transcription	Gastric	stomach
4	chr8:86368400-86375400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:86368600-86375600	Weak transcription	Esophagus	oesophagus
6	chr8:86369200-86375400	Enhancers	Primary B cells from cord blood	blood
7	chr8:86370400-86375400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:86372000-86375400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:86372200-86375400	Weak transcription	Primary T cells from cord blood	blood
10	chr8:86372200-86375400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:86373800-86375400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:86373800-86375400	Enhancers	Fetal Lung	lung
13	chr8:86374000-86375400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:86374000-86375400	Enhancers	Adipose Nuclei	Adipose
15	chr8:86374000-86375400	Enhancers	Brain Cingulate Gyrus	brain
16	chr8:86374000-86375600	Enhancers	Stomach Mucosa	stomach
17	chr8:86374200-86375400	Weak transcription	Colonic Mucosa	Colon
18	chr8:86374400-86375400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:86374400-86375600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr8:86374600-86375400	Enhancers	Primary hematopoietic stem cells	blood
21	chr8:86374600-86375400	Enhancers	Liver	Liver
22	chr8:86374800-86375400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr8:86374800-86375400	Enhancers	Primary B cells from peripheral blood	blood
24	chr8:86374800-86375400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr8:86375000-86375400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:86375000-86375400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr8:86375000-86375400	Enhancers	HMEC	breast
28	chr8:86375200-86375400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:86375200-86375400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:86375200-86375400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr8:86375200-86375400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr8:86375200-86375400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
33	chr8:86375200-86375400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
34	chr8:86375200-86375400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
35	chr8:86375200-86375400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:86375200-86375400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:86375200-86375400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:86375200-86375400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr8:86375200-86375400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:86375200-86375400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:86375200-86375400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr8:86375200-86375400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr8:86375200-86375400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:86375200-86375400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:86375200-86375400	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr8:86375200-86375400	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr8:86375200-86375400	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr8:86375200-86375400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr8:86375200-86375400	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr8:86375200-86375400	Enhancers	Duodenum Mucosa	Duodenum

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