Variant report

Variant	rs6994115
Chromosome Location	chr8:103907253-103907254
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	RUNX3	chr8:103906737-103907420	GM12878	blood:	n/a	n/a
2	MXI1	chr8:103906377-103907350	IMR90	lung:	n/a	chr8:103906824-103906839 chr8:103906826-103906841
3	PAX5	chr8:103906802-103907368	GM12878	blood:	n/a	n/a
4	SIN3A	chr8:103906610-103907300	H1-hESC	embryonic stem cell:	n/a	n/a
5	RUNX3	chr8:103907021-103907382	GM12878	blood:	n/a	n/a
6	RAD21	chr8:103906665-103907296	ECC-1	luminal epithelium:	n/a	chr8:103906911-103906925
7	RAD21	chr8:103906538-103907315	H1-hESC	embryonic stem cell:	n/a	chr8:103906911-103906925
8	TCF12	chr8:103906828-103907498	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103874946..103878144-chr8:103904857..103910279,6	MCF-7	breast:
2	chr8:103903842..103907470-chr8:103913570..103917002,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLF10-1	chr8:103905962-103908782	NONHSAT128128
2	lnc-ATP6V1C1-7	chr8:103906898-103907516	NONHSAT128129

Variant related genes	Relation type
AZIN1	TF binding region
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10086193	0.90[YRI][hapmap]
rs10097041	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10216659	0.86[AFR][1000 genomes]
rs11992533	0.85[YRI][hapmap]
rs13439806	1.00[ASW][hapmap];1.00[LWK][hapmap];0.82[MKK][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs28653358	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs28711114	0.94[AFR][1000 genomes]
rs60308236	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73280794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282506	0.90[AFR][1000 genomes];1.00[AMR][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv891245	chr8:103838004-103907253	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103878000-103908800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr8:103879200-103922000	Weak transcription	Fetal Intestine Small	intestine
3	chr8:103894200-103914600	Weak transcription	Fetal Lung	lung
4	chr8:103896400-103911200	Weak transcription	Primary T cells from cord blood	blood
5	chr8:103899600-103910200	Weak transcription	Thymus	Thymus
6	chr8:103900800-103908600	Weak transcription	Primary B cells from cord blood	blood
7	chr8:103904200-103907600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr8:103905000-103907400	Enhancers	GM12878-XiMat	blood
9	chr8:103905200-103910800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:103905400-103910800	Enhancers	Placenta	Placenta
11	chr8:103906000-103907400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:103906000-103907400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:103906000-103907400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:103906000-103907400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:103906000-103907600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:103906000-103907800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr8:103906000-103907800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr8:103906000-103908000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:103906200-103907400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:103906200-103907400	Enhancers	Fetal Thymus	thymus
21	chr8:103906200-103907600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr8:103906200-103907800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:103906200-103909400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr8:103906400-103907400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr8:103906400-103907400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:103906400-103907400	Enhancers	Brain Angular Gyrus	brain
27	chr8:103906400-103907400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr8:103906400-103907400	Enhancers	Fetal Heart	heart
29	chr8:103906400-103907400	Enhancers	Fetal Kidney	kidney
30	chr8:103906400-103907400	Enhancers	HSMMtube	muscle
31	chr8:103906400-103907400	Enhancers	NHDF-Ad	bronchial
32	chr8:103906400-103907600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:103906400-103907800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:103906400-103907800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:103906400-103907800	Enhancers	Brain Hippocampus Middle	brain
36	chr8:103906400-103907800	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr8:103906400-103907800	Enhancers	Brain Substantia Nigra	brain
38	chr8:103906400-103909200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:103906600-103907400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:103906600-103907400	Enhancers	Adipose Nuclei	Adipose
41	chr8:103906600-103907400	Enhancers	Liver	Liver
42	chr8:103906600-103907400	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr8:103906600-103907400	Enhancers	Fetal Stomach	stomach
44	chr8:103906600-103907400	Enhancers	Right Ventricle	heart
45	chr8:103906600-103907400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr8:103906600-103907600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:103906600-103907600	Enhancers	Brain Anterior Caudate	brain
48	chr8:103906600-103907800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:103906600-103907800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:103906600-103907800	Enhancers	Right Atrium	heart

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