Variant report

Variant	rs138891724
Chromosome Location	chr8:96145473-96145474
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	GATA3	chr8:96145326-96145920	T-47D	breast:	n/a	n/a
2	SRF	chr8:96145463-96146299	MCF-7	breast:	n/a	chr8:96145895-96145905 chr8:96146050-96146060
3	NR2F2	chr8:96145332-96147229	MCF-7	breast:	n/a	n/a
4	GATA3	chr8:96145228-96146493	MCF-7	breast:	n/a	chr8:96145307-96145314
5	USF2	chr8:96145435-96145986	Hela-S3	cervix:	n/a	n/a
6	SIN3AK20	chr8:96145240-96146481	MCF-7	breast:	n/a	n/a
7	MAX	chr8:96145208-96146329	MCF-7	breast:	n/a	chr8:96145980-96145990
8	PML	chr8:96145388-96146410	K562	blood:	n/a	n/a
9	EP300	chr8:96145382-96146255	T-47D	breast:	n/a	chr8:96146118-96146134 chr8:96146119-96146135 chr8:96146065-96146081
10	RAD21	chr8:96145276-96146150	MCF-7	breast:	n/a	chr8:96146122-96146135
11	E2F6	chr8:96144862-96146609	H1-hESC	embryonic stem cell:	n/a	chr8:96145986-96145995 chr8:96146115-96146125 chr8:96145854-96145861
12	MXI1	chr8:96145047-96146164	H1-hESC	embryonic stem cell:	n/a	n/a
13	BHLHE40	chr8:96145385-96146234	HepG2	liver:	n/a	n/a
14	E2F6	chr8:96145320-96146210	H1-hESC	embryonic stem cell:	n/a	chr8:96145986-96145995 chr8:96146115-96146125 chr8:96145854-96145861
15	RAD21	chr8:96145401-96146377	ECC-1	luminal epithelium:	n/a	chr8:96146122-96146135
16	MAZ	chr8:96145443-96146419	Hela-S3	cervix:	n/a	chr8:96145980-96145990
17	SP1	chr8:96145472-96146150	A549	lung:	n/a	chr8:96145862-96145874 chr8:96145897-96145906 chr8:96145895-96145906 chr8:96145892-96145906 chr8:96145841-96145851 chr8:96145937-96145947 chr8:96145896-96145905 chr8:96145863-96145872 chr8:96146052-96146061 chr8:96145922-96145933 chr8:96145841-96145851 chr8:96146050-96146062 chr8:96145863-96145872 chr8:96145895-96145907 chr8:96145897-96145906 chr8:96145864-96145873 chr8:96145895-96145907 chr8:96145862-96145874 chr8:96145896-96145906 chr8:96146050-96146062 chr8:96146047-96146061 chr8:96145863-96145877 chr8:96146051-96146060 chr8:96145863-96145873 chr8:96145863-96145873 chr8:96145896-96145906
18	NR2F2	chr8:96145168-96146344	K562	blood:	n/a	n/a
19	MTA3	chr8:96145401-96145842	GM12878	blood:	n/a	n/a
20	SETDB1	chr8:96145299-96146006	U2OS	brain:	n/a	chr8:96145963-96145972
21	PML	chr8:96145449-96146409	MCF-7	breast:	n/a	n/a
22	POLR2A	chr8:96145129-96146414	Raji	blood:	n/a	n/a
23	POLR2A	chr8:96145429-96146471	MCF-7	breast:	n/a	n/a
24	POLR2A	chr8:96145406-96147188	K562	blood:	n/a	n/a
25	GATA3	chr8:96145172-96146315	T-47D	breast:	n/a	chr8:96145307-96145314
26	CEBPB	chr8:96145443-96145913	K562	blood:	n/a	chr8:96145708-96145721 chr8:96145709-96145720
27	MAX	chr8:96144902-96146379	H1-hESC	embryonic stem cell:	n/a	chr8:96145980-96145990 chr8:96145070-96145077
28	CHD2	chr8:96145361-96146331	H1-hESC	embryonic stem cell:	n/a	chr8:96145890-96145900 chr8:96145897-96145907
29	MAX	chr8:96145375-96146404	NB4	blood:	n/a	chr8:96145980-96145990
30	E2F6	chr8:96145447-96146618	K562	blood:	n/a	chr8:96145986-96145995 chr8:96146115-96146125 chr8:96145854-96145861 chr8:96146599-96146611
31	MAZ	chr8:96145430-96146483	GM12878	blood:	n/a	chr8:96145980-96145990
32	HCFC1	chr8:96145258-96147473	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr8:96145419-96146508	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr8:96145209-96146519	HCT-116	colon:	n/a	chr8:96145980-96145990
35	ETS1	chr8:96145427-96146514	K562	blood:	n/a	chr8:96145820-96145831
36	MXI1	chr8:96144930-96147518	SK-N-SH	brain:	n/a	n/a
37	JUND	chr8:96145450-96146371	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr8:96145262-96146037	MCF-7	breast:	n/a	chr8:96145708-96145721 chr8:96145709-96145720
39	MAX	chr8:96145380-96146364	H1-hESC	embryonic stem cell:	n/a	chr8:96145980-96145990
40	TAF1	chr8:96145378-96146532	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr8:96145333-96146494	PBDE	blood:	n/a	n/a
42	EGR1	chr8:96145431-96146351	MCF-7	breast:	n/a	chr8:96145835-96145850 chr8:96145981-96145994 chr8:96146093-96146103 chr8:96146048-96146070
43	MAX	chr8:96145362-96146427	HepG2	liver:	n/a	chr8:96145980-96145990
44	CREB1	chr8:96145375-96146508	HepG2	liver:	n/a	n/a
45	CBX3	chr8:96144999-96146354	K562	blood:	n/a	n/a
46	MYC	chr8:96145114-96146300	K562	blood:	n/a	chr8:96145980-96145990
47	CBX3	chr8:96145451-96145906	K562	blood:	n/a	n/a
48	POLR2A	chr8:96145369-96145895	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr8:96145322-96146458	K562	blood:	n/a	n/a
50	POLR2A	chr8:96145421-96147140	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:96095758..96103345-chr8:96144049..96152228,17	MCF-7	breast:
2	chr8:96064790..96067980-chr8:96145061..96147723,3	MCF-7	breast:
3	chr8:96143545..96145795-chr8:96241070..96242615,2	K562	blood:
4	chr8:95958803..95961918-chr8:96144805..96148535,6	MCF-7	breast:
5	chr8:95959198..95962585-chr8:96144089..96147312,4	MCF-7	breast:
6	chr8:96142341..96149648-chr8:96278644..96282772,12	MCF-7	breast:
7	chr14:51410376..51411320-chr8:96145334..96146212,2	Hela-S3	cervix:
8	chr8:96144909..96147734-chr8:96280323..96283069,4	K562	blood:
9	chr8:96066564..96073895-chr8:96144947..96151399,9	MCF-7	breast:
10	chr8:96131679..96134773-chr8:96142918..96145954,3	MCF-7	breast:
11	chr8:96107778..96115564-chr8:96144421..96149353,22	MCF-7	breast:
12	chr8:96143208..96147491-chr8:96279441..96282856,8	MCF-7	breast:
13	chr8:96060626..96064106-chr8:96144836..96147979,3	MCF-7	breast:
14	chr8:96085590..96087361-chr8:96143254..96146025,2	K562	blood:
15	chr8:96081666..96087784-chr8:96143058..96146914,11	MCF-7	breast:
16	chr8:96108471..96116302-chr8:96144708..96150629,15	MCF-7	breast:
17	chr8:96096484..96101537-chr8:96142870..96147410,9	MCF-7	breast:
18	chr8:95906813..95909487-chr8:96144078..96147982,7	MCF-7	breast:
19	chr8:95906396..95909110-chr8:96144664..96147276,2	MCF-7	breast:
20	chr8:96035216..96038805-chr8:96144544..96148215,5	MCF-7	breast:
21	chr8:95906309..95909766-chr8:96145150..96148465,4	K562	blood:
22	chr8:96082201..96091738-chr8:96143838..96148400,13	MCF-7	breast:
23	chr17:59477291..59479669-chr8:96145065..96147248,2	MCF-7	breast:
24	chr8:96035638..96037575-chr8:96142596..96146380,3	K562	blood:
25	chr8:96033821..96037970-chr8:96145284..96149341,6	MCF-7	breast:

Variant related genes	Relation type
PLEKHF2	TF binding region
ENSG00000267131	Chromatin interaction
ENSG00000253878	Chromatin interaction
ENSG00000164938	Chromatin interaction
ENSG00000245080	Chromatin interaction
ENSG00000254248	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000100504	Chromatin interaction
ENSG00000200525	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000175305	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv891207	chr8:96106037-96160914	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	esv3371147	chr8:96145201-96147749	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96142000-96145600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:96143200-96145600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:96145000-96145600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr8:96145000-96145600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:96145000-96145800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:96145000-96145800	Flanking Active TSS	NHEK	skin
7	chr8:96145000-96147400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr8:96145000-96147400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr8:96145000-96147600	Active TSS	Brain Anterior Caudate	brain
10	chr8:96145000-96147800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr8:96145200-96145600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:96145200-96145600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:96145200-96145600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:96145200-96145600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:96145200-96145600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:96145200-96145600	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr8:96145200-96145600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr8:96145200-96145600	Flanking Active TSS	Fetal Intestine Large	intestine
19	chr8:96145200-96145600	Flanking Active TSS	Fetal Intestine Small	intestine
20	chr8:96145200-96145600	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr8:96145200-96145800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr8:96145200-96145800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr8:96145200-96145800	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr8:96145200-96145800	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr8:96145200-96145800	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr8:96145200-96145800	Flanking Active TSS	Fetal Lung	lung
27	chr8:96145200-96145800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr8:96145200-96145800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr8:96145200-96145800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr8:96145200-96145800	Flanking Active TSS	Dnd41	blood
31	chr8:96145200-96145800	Flanking Active TSS	GM12878-XiMat	blood
32	chr8:96145200-96145800	Flanking Active TSS	K562	blood
33	chr8:96145200-96145800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr8:96145200-96145800	Flanking Active TSS	NH-A	brain
35	chr8:96145200-96146800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:96145200-96147200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:96145200-96147200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:96145200-96147200	Active TSS	Brain Cingulate Gyrus	brain
39	chr8:96145200-96147200	Active TSS	Osteobl	bone
40	chr8:96145200-96147400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr8:96145200-96147400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:96145200-96147400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:96145200-96147400	Active TSS	Colon Smooth Muscle	Colon
44	chr8:96145200-96147400	Active TSS	Placenta Amnion	Placenta Amnion
45	chr8:96145200-96147600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:96145200-96147600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:96145200-96147600	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr8:96145200-96147800	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr8:96145200-96147800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:96145200-96148000	Active TSS	Duodenum Smooth Muscle	Duodenum

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