Variant report

Variant	rs1434281
Chromosome Location	chr8:103671080-103671081
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	POLR2A	chr8:103658281-103671095	U87	brain:	n/a	n/a
2	POLR2A	chr8:103665834-103671111	GM19099	blood:	n/a	n/a
3	POLR2A	chr8:103665982-103671233	GM18505	blood:	n/a	n/a
4	POLR2A	chr8:103658275-103671134	U87	brain:	n/a	n/a
5	EBF1	chr8:103670794-103671115	GM12878	blood:	n/a	chr8:103671001-103671012
6	MTA3	chr8:103666662-103671244	GM12878	blood:	n/a	n/a
7	POLR2A	chr8:103657996-103671148	IMR90	lung:	n/a	n/a
8	CHD1	chr8:103658863-103671127	IMR90	lung:	n/a	chr8:103667474-103667484 chr8:103666764-103666774 chr8:103668628-103668638 chr8:103668700-103668710 chr8:103666990-103667000
9	POLR2A	chr8:103670874-103671123	HUVEC	blood vessel:	n/a	n/a
10	EBF1	chr8:103670801-103671184	GM12878	blood:	n/a	chr8:103671001-103671012
11	MAZ	chr8:103665305-103671136	IMR90	lung:	n/a	chr8:103666317-103666326 chr8:103668327-103668342 chr8:103666996-103667006 chr8:103666326-103666336 chr8:103666639-103666649 chr8:103666814-103666823 chr8:103666700-103666710 chr8:103668327-103668336 chr8:103668331-103668340

No.	Distal block	Cell Line	Cell type
1	chr8:103668401..103671307-chr8:103686739..103688259,2	K562	blood:
2	chr8:103669620..103671397-chr8:103696948..103698571,2	K562	blood:
3	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
4	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
5	chr8:103612597..103614487-chr8:103669576..103671484,2	MCF-7	breast:
6	chr1:227503315..227505828-chr8:103669549..103671492,2	MCF-7	breast:
7	chr8:103669018..103671506-chr8:103743159..103745157,2	MCF-7	breast:
8	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
9	chr8:103422573..103426010-chr8:103669254..103672542,3	MCF-7	breast:
10	chr8:103669620..103672058-chr8:103696948..103699668,2	K562	blood:
11	chr8:103669378..103671910-chr8:103714543..103716720,2	MCF-7	breast:
12	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:

Variant related genes	Relation type
KLF10	TF binding region
ENSG00000104517	Chromatin interaction
ENSG00000143776	Chromatin interaction
ENSG00000253669	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10106298	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1076030	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13275089	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1550005	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17773903	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2099408	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2436936	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2436940	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3191333	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35155104	0.81[ASN][1000 genomes]
rs4281092	0.81[ASN][1000 genomes]
rs4734652	0.81[ASN][1000 genomes]
rs4734654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7002992	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7835270	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103668600-103671200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr8:103669400-103674600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr8:103669600-103671200	Enhancers	Fetal Brain Male	brain
4	chr8:103669800-103671200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr8:103669800-103671200	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr8:103669800-103671200	Enhancers	Fetal Muscle Trunk	muscle
7	chr8:103669800-103671200	Enhancers	Placenta	Placenta
8	chr8:103669800-103671600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:103669800-103671800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr8:103669800-103673000	Enhancers	K562	blood
11	chr8:103669800-103674400	Enhancers	Primary T cells from cord blood	blood
12	chr8:103670000-103671200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:103670000-103671200	Enhancers	Brain Hippocampus Middle	brain
14	chr8:103670000-103671200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr8:103670000-103671200	Enhancers	NHEK	skin
16	chr8:103670000-103671400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr8:103670000-103671400	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr8:103670000-103671400	Enhancers	Fetal Muscle Leg	muscle
19	chr8:103670000-103671400	Enhancers	Fetal Stomach	stomach
20	chr8:103670000-103671600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr8:103670000-103674400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:103670000-103674400	Weak transcription	Psoas Muscle	Psoas
23	chr8:103670000-103674600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr8:103670200-103671600	Enhancers	Primary hematopoietic stem cells	blood
25	chr8:103670200-103672000	Enhancers	Lung	lung
26	chr8:103670200-103672200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr8:103670200-103672200	Enhancers	Primary B cells from cord blood	blood
28	chr8:103670200-103672600	Enhancers	Fetal Thymus	thymus
29	chr8:103670200-103672800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:103670200-103674400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr8:103670400-103671400	Enhancers	HUVEC	blood vessel
32	chr8:103670400-103672400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr8:103670600-103671200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr8:103670600-103671200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:103670600-103671200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:103670600-103671200	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr8:103670600-103671200	Enhancers	Adipose Nuclei	Adipose
38	chr8:103670600-103672000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:103670600-103674400	Weak transcription	Liver	Liver
40	chr8:103670600-103674400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr8:103670600-103674600	Enhancers	Primary B cells from peripheral blood	blood
42	chr8:103670600-103674600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr8:103670600-103674600	Weak transcription	Brain Angular Gyrus	brain
44	chr8:103670600-103675200	Weak transcription	Gastric	stomach
45	chr8:103670800-103671200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr8:103670800-103671200	Enhancers	A549	lung
47	chr8:103670800-103673400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:103670800-103673400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr8:103670800-103674400	Weak transcription	Stomach Mucosa	stomach
50	chr8:103670800-103674600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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