Variant report

Variant	rs575237513
Chromosome Location	chr8:126441043-126441044
allele	A/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	SMC3	chr8:126440994-126445244	SK-N-SH	brain:	n/a	chr8:126444444-126444458 chr8:126445127-126445137 chr8:126442868-126442878 chr8:126441364-126441372 chr8:126442236-126442246
2	CEBPB	chr8:126441010-126443155	HCT-116	colon:	n/a	chr8:126442459-126442470 chr8:126442461-126442472 chr8:126442459-126442472 chr8:126442461-126442470
3	REST	chr8:126440902-126445170	H1-neurons	neurons:	n/a	chr8:126443511-126443524 chr8:126441814-126441834 chr8:126442772-126442785 chr8:126443514-126443527 chr8:126444327-126444340 chr8:126442059-126442077
4	MAX	chr8:126440986-126445378	A549	lung:	n/a	chr8:126445237-126445247 chr8:126441515-126441524 chr8:126441515-126441524 chr8:126441514-126441525 chr8:126441514-126441524 chr8:126441515-126441525 chr8:126441846-126441853 chr8:126441517-126441526 chr8:126443763-126443772 chr8:126441848-126441857 chr8:126441515-126441524
5	RCOR1	chr8:126440829-126443161	IMR90	lung:	n/a	n/a
6	RAD21	chr8:126441039-126445579	SK-N-SH	brain:	n/a	chr8:126444440-126444459 chr8:126442868-126442878 chr8:126441997-126442010
7	POLR2A	chr8:126440845-126451319	HL-60	blood:	n/a	n/a
8	SIN3AK20	chr8:126440930-126445266	MCF-7	breast:	n/a	n/a
9	MXI1	chr8:126440846-126445919	SK-N-SH	brain:	n/a	chr8:126441516-126441525 chr8:126442841-126442856 chr8:126441514-126441523
10	POLR2A	chr8:126440811-126453303	HCT-116	colon:	n/a	n/a
11	SP1	chr8:126440994-126442922	A549	lung:	n/a	chr8:126442177-126442191 chr8:126441673-126441683 chr8:126442135-126442149 chr8:126441893-126441907 chr8:126442265-126442275 chr8:126441660-126441674 chr8:126441478-126441492 chr8:126442178-126442187 chr8:126441778-126441792
12	CHD1	chr8:126440942-126451257	IMR90	lung:	n/a	chr8:126442049-126442059
13	MYC	chr8:126440887-126445088	A549	lung:	n/a	chr8:126441515-126441524 chr8:126441515-126441524 chr8:126441514-126441525 chr8:126441514-126441524 chr8:126441515-126441525 chr8:126441846-126441853 chr8:126441517-126441526 chr8:126443763-126443772 chr8:126441848-126441857 chr8:126441515-126441524
14	POLR2A	chr8:126440965-126443178	HepG2	liver:	n/a	n/a
15	REST	chr8:126440977-126443183	A549	lung:	n/a	chr8:126441814-126441834 chr8:126442772-126442785 chr8:126442059-126442077
16	POLR2A	chr8:126440867-126453568	IMR90	lung:	n/a	n/a
17	TCF12	chr8:126440913-126445006	A549	lung:	n/a	chr8:126442484-126442493 chr8:126443802-126443810 chr8:126444610-126444620 chr8:126443914-126443921 chr8:126443910-126443920
18	HCFC1	chr8:126440831-126445417	Hela-S3	cervix:	n/a	n/a
19	SPI1	chr8:126440830-126450368	HL-60	blood:	n/a	chr8:126442178-126442191 chr8:126446093-126446100 chr8:126443704-126443711 chr8:126447275-126447288 chr8:126443789-126443798
20	MAZ	chr8:126440866-126445762	IMR90	lung:	n/a	chr8:126445237-126445247 chr8:126441515-126441524 chr8:126441515-126441524 chr8:126441514-126441525 chr8:126441514-126441524 chr8:126441515-126441525 chr8:126441846-126441853 chr8:126441517-126441526 chr8:126443763-126443772 chr8:126441848-126441857 chr8:126441515-126441524
21	SPI1	chr8:126440834-126451185	HL-60	blood:	n/a	chr8:126442178-126442191 chr8:126446093-126446100 chr8:126443704-126443711 chr8:126447275-126447288 chr8:126443789-126443798
22	CTCF	chr8:126440805-126445236	A549	lung:	n/a	chr8:126442233-126442246 chr8:126444442-126444460 chr8:126444444-126444457 chr8:126441896-126441909 chr8:126444437-126444458
23	REST	chr8:126440825-126451296	HL-60	blood:	n/a	chr8:126443511-126443524 chr8:126441814-126441834 chr8:126442772-126442785 chr8:126443514-126443527 chr8:126444327-126444340 chr8:126442059-126442077
24	MXI1	chr8:126440887-126445798	IMR90	lung:	n/a	chr8:126441516-126441525 chr8:126442841-126442856 chr8:126441514-126441523

No.	Distal block	Cell Line	Cell type
1	chr8:126409326..126412304-chr8:126440467..126442135,2	MCF-7	breast:
2	chr8:126371278..126373915-chr8:126440851..126442526,2	MCF-7	breast:
3	chr8:126289014..126291245-chr8:126440114..126442015,2	MCF-7	breast:
4	chr8:126361514..126365167-chr8:126440219..126443605,3	K562	blood:
5	chr8:126392836..126396701-chr8:126439754..126442098,3	MCF-7	breast:
6	chr8:126440357..126442550-chr8:126518210..126520213,2	K562	blood:
7	chr5:138089739..138090262-chr8:126440998..126441567,2	Hela-S3	cervix:
8	chr8:126136568..126138069-chr8:126439799..126441480,2	MCF-7	breast:
9	chr8:126367782..126370387-chr8:126440468..126442210,2	K562	blood:
10	chr8:126112294..126114961-chr8:126440449..126443868,3	MCF-7	breast:
11	chr8:126439520..126441495-chr8:126640041..126642897,2	MCF-7	breast:
12	chr8:126126335..126143313-chr8:126439680..126445836,35	MCF-7	breast:
13	chr8:126412879..126414831-chr8:126440456..126442134,2	MCF-7	breast:
14	chr8:126123096..126125735-chr8:126439490..126442539,3	MCF-7	breast:
15	chr8:126439858..126442559-chr8:126576058..126577661,2	MCF-7	breast:
16	chr8:126194440..126196761-chr8:126440520..126442418,2	MCF-7	breast:

Variant related genes	Relation type
TRIB1	TF binding region
ENSG00000254431	Chromatin interaction
ENSG00000044115	Chromatin interaction
ENSG00000156831	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3366048	chr8:126440820-126444518	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126423400-126441200	Weak transcription	Right Atrium	heart
2	chr8:126433000-126441200	Weak transcription	HMEC	breast
3	chr8:126435400-126441200	Weak transcription	GM12878-XiMat	blood
4	chr8:126436000-126441200	Weak transcription	Primary B cells from cord blood	blood
5	chr8:126436400-126441200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr8:126436800-126441400	Weak transcription	Ovary	ovary
7	chr8:126438200-126441200	Enhancers	Colonic Mucosa	Colon
8	chr8:126438200-126441200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr8:126438400-126441200	Weak transcription	Lung	lung
10	chr8:126438600-126441200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:126438600-126441200	Weak transcription	Left Ventricle	heart
12	chr8:126438800-126441200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:126438800-126441200	Enhancers	Hela-S3	cervix
14	chr8:126438800-126441400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:126438800-126441400	Weak transcription	Liver	Liver
16	chr8:126439000-126441200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:126439000-126441400	Enhancers	Fetal Thymus	thymus
18	chr8:126439200-126441200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr8:126439200-126441400	Weak transcription	Esophagus	oesophagus
20	chr8:126439400-126441200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:126439400-126441200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:126439400-126441200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:126439600-126441200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:126439600-126441200	Weak transcription	Adipose Nuclei	Adipose
25	chr8:126439600-126441200	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:126439800-126441200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:126439800-126441200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:126439800-126441200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr8:126439800-126441200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:126439800-126441200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:126439800-126441200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:126439800-126441200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:126439800-126441200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:126439800-126441200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:126439800-126441200	Weak transcription	Brain Anterior Caudate	brain
36	chr8:126439800-126441200	Weak transcription	Placenta	Placenta
37	chr8:126439800-126441200	Weak transcription	Gastric	stomach
38	chr8:126439800-126441200	Weak transcription	Right Ventricle	heart
39	chr8:126440000-126441200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:126440000-126441200	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:126440200-126441200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr8:126440200-126441200	Weak transcription	NHEK	skin
43	chr8:126440400-126441200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:126440400-126441200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:126440400-126441200	Enhancers	Fetal Brain Male	brain
46	chr8:126440400-126441200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr8:126440400-126441200	Weak transcription	Spleen	Spleen
48	chr8:126440800-126441200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr8:126440800-126441200	Enhancers	HUVEC	blood vessel
50	chr8:126440800-126441400	Enhancers	Fetal Heart	heart

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