Variant report

Variant	rs75827641
Chromosome Location	chr8:86375143-86375144
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	SIN3AK20	chr8:86375078-86377077	MCF-7	breast:	n/a	n/a
2	POLR2A	chr8:86374830-86376721	MCF10A-Er-Src	breast:	n/a	n/a
3	CTCF	chr8:86375100-86375250	HCM	heart:	n/a	n/a
4	RAD21	chr8:86375136-86376772	HCT-116	colon:	n/a	chr8:86375566-86375579 chr8:86375954-86375967
5	CTCF	chr8:86375106-86375928	A549	lung:	n/a	chr8:86375565-86375578

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:

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

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:52 , 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	chr8:86366600-86375200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:86366800-86375200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:86366800-86375200	Weak transcription	NHEK	skin
6	chr8:86367600-86375600	Weak transcription	Gastric	stomach
7	chr8:86368400-86375400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:86368600-86375600	Weak transcription	Esophagus	oesophagus
9	chr8:86369200-86375400	Enhancers	Primary B cells from cord blood	blood
10	chr8:86370400-86375400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:86371800-86375200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr8:86371800-86375200	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:86372000-86375400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:86372200-86375200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:86372200-86375200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:86372200-86375400	Weak transcription	Primary T cells from cord blood	blood
17	chr8:86372200-86375400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:86372400-86375200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:86373800-86375200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:86373800-86375200	Enhancers	Brain Angular Gyrus	brain
21	chr8:86373800-86375200	Enhancers	Brain Anterior Caudate	brain
22	chr8:86373800-86375200	Enhancers	Brain Hippocampus Middle	brain
23	chr8:86373800-86375400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:86373800-86375400	Enhancers	Fetal Lung	lung
25	chr8:86374000-86375200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr8:86374000-86375200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:86374000-86375200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr8:86374000-86375200	Enhancers	Brain Substantia Nigra	brain
29	chr8:86374000-86375200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr8:86374000-86375400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr8:86374000-86375400	Enhancers	Adipose Nuclei	Adipose
32	chr8:86374000-86375400	Enhancers	Brain Cingulate Gyrus	brain
33	chr8:86374000-86375600	Enhancers	Stomach Mucosa	stomach
34	chr8:86374200-86375400	Weak transcription	Colonic Mucosa	Colon
35	chr8:86374400-86375200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
36	chr8:86374400-86375200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:86374400-86375200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr8:86374400-86375400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:86374400-86375600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr8:86374600-86375200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
41	chr8:86374600-86375400	Enhancers	Primary hematopoietic stem cells	blood
42	chr8:86374600-86375400	Enhancers	Liver	Liver
43	chr8:86374800-86375200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:86374800-86375200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
45	chr8:86374800-86375400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
46	chr8:86374800-86375400	Enhancers	Primary B cells from peripheral blood	blood
47	chr8:86374800-86375400	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr8:86375000-86375200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr8:86375000-86375200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
50	chr8:86375000-86375400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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