Variant report

Variant	rs530261972
Chromosome Location	chr8:126103268-126103269
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	MXI1	chr8:126102904-126104941	IMR90	lung:	n/a	n/a
2	MXI1	chr8:126103029-126104965	SK-N-SH	brain:	n/a	n/a
3	SIN3AK20	chr8:126103078-126104886	MCF-7	breast:	n/a	n/a
4	RCOR1	chr8:126103178-126104210	K562	blood:	n/a	n/a
5	MYC	chr8:126103230-126104291	K562	blood:	n/a	chr8:126104055-126104064 chr8:126104019-126104028
6	MAX	chr8:126103222-126104879	Hela-S3	cervix:	n/a	chr8:126104784-126104794 chr8:126104055-126104064 chr8:126104019-126104028
7	GTF2F1	chr8:126103038-126103297	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr8:126103106-126103376	K562	blood:	n/a	n/a
9	HCFC1	chr8:126102270-126105465	Hela-S3	cervix:	n/a	n/a
10	HA-E2F1	chr8:126103179-126104490	MCF-7	breast:	n/a	chr8:126103879-126103888
11	POLR2A	chr8:126103252-126103304	GM12878	blood:	n/a	n/a
12	MEF2A	chr8:126102757-126103430	K562	blood:	n/a	chr8:126102997-126103018 chr8:126102998-126103013 chr8:126102998-126103014 chr8:126102997-126103018 chr8:126103002-126103011 chr8:126102999-126103014 chr8:126103000-126103011 chr8:126102999-126103013 chr8:126103001-126103012 chr8:126102997-126103018
13	CTCF	chr8:126103200-126103350	MCF-7	breast:	n/a	n/a
14	MYC	chr8:126103084-126104446	K562	blood:	n/a	chr8:126104055-126104064 chr8:126104019-126104028
15	HDAC2	chr8:126103255-126104606	MCF-7	breast:	n/a	chr8:126103371-126103385 chr8:126103307-126103321 chr8:126103372-126103386 chr8:126103302-126103316 chr8:126103306-126103320
16	MAX	chr8:126103017-126104496	MCF-7	breast:	n/a	chr8:126104055-126104064 chr8:126104019-126104028
17	MAX	chr8:126103083-126104332	K562	blood:	n/a	chr8:126104055-126104064 chr8:126104019-126104028
18	HDAC2	chr8:126103206-126104293	MCF-7	breast:	n/a	chr8:126103371-126103385 chr8:126103307-126103321 chr8:126103372-126103386 chr8:126103302-126103316 chr8:126103306-126103320
19	SIN3A	chr8:126103154-126104741	H1-hESC	embryonic stem cell:	n/a	chr8:126103780-126103793 chr8:126104033-126104044
20	POLR2A	chr8:126103251-126105038	MCF10A-Er-Src	breast:	n/a	n/a
21	CTCF	chr8:126103260-126103410	A549	lung:	n/a	n/a
22	POLR2A	chr8:126103232-126103273	K562	blood:	n/a	n/a
23	NR2F2	chr8:126103127-126104505	MCF-7	breast:	n/a	n/a
24	USF2	chr8:126103175-126104808	Hela-S3	cervix:	n/a	chr8:126104054-126104065 chr8:126104017-126104028
25	SIN3AK20	chr8:126103109-126104830	MCF-7	breast:	n/a	n/a
26	ELF1	chr8:126103118-126104622	MCF-7	breast:	n/a	chr8:126103906-126103918
27	ELF1	chr8:126103256-126104500	MCF-7	breast:	n/a	chr8:126103906-126103918

No.	Distal block	Cell Line	Cell type
1	chr12:120729365..120731964-chr8:126101720..126104275,2	MCF-7	breast:
2	chr8:125547520..125551844-chr8:126101419..126105683,3	MCF-7	breast:
3	chr8:126101179..126103538-chr8:126440176..126443117,2	K562	blood:
4	chr8:126100915..126106135-chr8:126441974..126444669,8	MCF-7	breast:
5	chr8:126093925..126097720-chr8:126099052..126104024,5	MCF-7	breast:
6	chr8:126010080..126012320-chr8:126100351..126105467,4	MCF-7	breast:
7	chr8:126095296..126097801-chr8:126101628..126103639,2	K562	blood:
8	chr8:126101740..126106410-chr8:126441508..126444796,5	MCF-7	breast:
9	chr8:126094932..126099483-chr8:126100368..126105771,7	K562	blood:

Variant related genes	Relation type
NSMCE2	TF binding region
ENSG00000147684	Chromatin interaction
ENSG00000173334	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000253513	Chromatin interaction
ENSG00000164961	Chromatin interaction
ENSG00000147687	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv465803	chr8:126068197-126132816	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
6	nsv612148	chr8:126068197-126132816	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126102400-126103400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:126102400-126103400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:126102400-126103400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr8:126102400-126103400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
5	chr8:126102400-126103400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:126102400-126103400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:126102400-126103400	Flanking Active TSS	Dnd41	blood
8	chr8:126102400-126103400	Flanking Active TSS	Hela-S3	cervix
9	chr8:126102400-126103400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr8:126102400-126103600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr8:126102400-126103600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:126102400-126103800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:126102400-126104600	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr8:126102400-126104600	Active TSS	Brain Substantia Nigra	brain
15	chr8:126102400-126104800	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr8:126102400-126105400	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr8:126102600-126103400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:126102600-126103400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr8:126102600-126103400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr8:126102600-126103600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr8:126102600-126103600	Flanking Active TSS	HUVEC	blood vessel
22	chr8:126102600-126103800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:126102600-126104800	Active TSS	GM12878-XiMat	blood
24	chr8:126102600-126104800	Active TSS	NHDF-Ad	bronchial
25	chr8:126102600-126105000	Active TSS	Right Atrium	heart
26	chr8:126102800-126103400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:126102800-126103400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:126102800-126103400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:126102800-126103400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:126102800-126103400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr8:126102800-126103400	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr8:126102800-126103400	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr8:126102800-126103400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr8:126102800-126103400	Flanking Active TSS	Fetal Brain Female	brain
35	chr8:126102800-126103400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr8:126102800-126103400	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr8:126102800-126103400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr8:126102800-126103400	Flanking Active TSS	NH-A	brain
39	chr8:126102800-126103400	Flanking Active TSS	Osteobl	bone
40	chr8:126102800-126103600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr8:126102800-126103600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr8:126102800-126103600	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr8:126102800-126103600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr8:126102800-126103600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr8:126102800-126103800	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr8:126102800-126103800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr8:126102800-126104600	Active TSS	Fetal Kidney	kidney
48	chr8:126102800-126104600	Active TSS	K562	blood
49	chr8:126102800-126104800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:126102800-126104800	Active TSS	iPS-15b Cell Line	embryonic stem cell

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