Variant report

Variant	rs530001745
Chromosome Location	chr6:150168661-150168662
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	NR2F2	chr6:150167985-150168662	MCF-7	breast:	n/a	n/a
2	JUN	chr6:150168597-150169060	K562	blood:	n/a	chr6:150168876-150168888 chr6:150168861-150168869 chr6:150168861-150168869 chr6:150168860-150168870 chr6:150168859-150168871 chr6:150168861-150168868
3	GATA3	chr6:150168361-150168892	SH-SY5Y	brain:	n/a	chr6:150168876-150168885 chr6:150168859-150168868
4	ATF3	chr6:150168612-150169050	K562	blood:	n/a	n/a
5	FOXA1	chr6:150168606-150168997	T-47D	breast:	n/a	n/a
6	FOXA1	chr6:150168657-150169000	T-47D	breast:	n/a	n/a
7	E2F4	chr6:150168643-150168976	MCF10A-Er-Src	breast:	n/a	n/a
8	FOSL1	chr6:150168660-150169011	K562	blood:	n/a	chr6:150168876-150168888 chr6:150168861-150168869 chr6:150168859-150168870 chr6:150168861-150168869 chr6:150168860-150168870 chr6:150168859-150168871 chr6:150168861-150168868
9	NFIC	chr6:150168581-150169198	SK-N-SH	brain:	n/a	chr6:150168836-150168852 chr6:150168826-150168854 chr6:150168838-150168854 chr6:150168837-150168854
10	FOSL2	chr6:150168610-150169045	A549	lung:	n/a	chr6:150168876-150168888 chr6:150168861-150168869 chr6:150168861-150168869 chr6:150168860-150168870 chr6:150168859-150168871 chr6:150168861-150168868
11	POLR2A	chr6:150168627-150169077	U87	brain:	n/a	n/a
12	BHLHE40	chr6:150168195-150169061	HepG2	liver:	n/a	n/a
13	EP300	chr6:150168593-150169035	K562	blood:	n/a	chr6:150168861-150168870
14	EP300	chr6:150168554-150169199	A549	lung:	n/a	chr6:150168861-150168870
15	GATA3	chr6:150168083-150169335	SK-N-SH	brain:	n/a	chr6:150168876-150168885 chr6:150168859-150168868
16	EP300	chr6:150168111-150169259	SK-N-SH	brain:	n/a	chr6:150168861-150168870
17	JUND	chr6:150168591-150169140	T-47D	breast:	n/a	chr6:150168876-150168888 chr6:150168861-150168869 chr6:150168861-150168869 chr6:150168860-150168870 chr6:150168859-150168871 chr6:150168859-150168870 chr6:150168861-150168868
18	FOS	chr6:150168638-150169252	MCF10A-Er-Src	breast:	n/a	chr6:150168876-150168888 chr6:150168861-150168869 chr6:150168861-150168869 chr6:150168860-150168870 chr6:150168859-150168871 chr6:150168861-150168868 chr6:150168859-150168870
19	GATA3	chr6:150168160-150169378	MCF-7	breast:	n/a	chr6:150168876-150168885 chr6:150168859-150168868
20	JUND	chr6:150168094-150169452	SK-N-SH	brain:	n/a	chr6:150168876-150168888 chr6:150168861-150168869 chr6:150168242-150168252 chr6:150168861-150168869 chr6:150168860-150168870 chr6:150168242-150168252 chr6:150168859-150168871 chr6:150168859-150168870 chr6:150168861-150168868 chr6:150168242-150168252
21	MAFK	chr6:150168631-150169048	K562	blood:	n/a	chr6:150168861-150168871 chr6:150168878-150168888 chr6:150168809-150168824
22	FOSL2	chr6:150168566-150169266	SK-N-SH	brain:	n/a	chr6:150168876-150168888 chr6:150168861-150168869 chr6:150168861-150168869 chr6:150168860-150168870 chr6:150168859-150168871 chr6:150168861-150168868
23	JUN	chr6:150168273-150169339	K562	blood:	n/a	chr6:150168876-150168888 chr6:150168861-150168869 chr6:150168861-150168869 chr6:150168860-150168870 chr6:150168859-150168871 chr6:150168861-150168868
24	GATA2	chr6:150168249-150169004	HUVEC	blood vessel:	n/a	chr6:150168876-150168885 chr6:150168859-150168868
25	JUND	chr6:150168540-150169284	MCF-7	breast:	n/a	chr6:150168876-150168888 chr6:150168861-150168869 chr6:150168861-150168869 chr6:150168860-150168870 chr6:150168859-150168871 chr6:150168859-150168870 chr6:150168861-150168868
26	PBX3	chr6:150168131-150169198	SK-N-SH	brain:	n/a	chr6:150168514-150168525
27	FOS	chr6:150168601-150169114	HUVEC	blood vessel:	n/a	chr6:150168876-150168888 chr6:150168861-150168869 chr6:150168861-150168869 chr6:150168860-150168870 chr6:150168859-150168871 chr6:150168861-150168868 chr6:150168859-150168870
28	JUND	chr6:150168529-150169268	SK-N-SH	brain:	n/a	chr6:150168876-150168888 chr6:150168861-150168869 chr6:150168861-150168869 chr6:150168860-150168870 chr6:150168859-150168871 chr6:150168859-150168870 chr6:150168861-150168868
29	TEAD4	chr6:150168611-150169038	K562	blood:	n/a	n/a
30	FOSL1	chr6:150168539-150169279	HCT-116	colon:	n/a	chr6:150168876-150168888 chr6:150168861-150168869 chr6:150168859-150168870 chr6:150168861-150168869 chr6:150168860-150168870 chr6:150168859-150168871 chr6:150168861-150168868
31	JUN	chr6:150168659-150169218	Hela-S3	cervix:	n/a	chr6:150168876-150168888 chr6:150168861-150168869 chr6:150168861-150168869 chr6:150168860-150168870 chr6:150168859-150168871 chr6:150168861-150168868
32	TCF12	chr6:150167177-150169399	SK-N-SH	brain:	n/a	chr6:150167615-150167625 chr6:150168383-150168390 chr6:150167569-150167579
33	ZMIZ1	chr6:150168614-150168982	K562	blood:	n/a	n/a
34	TCF12	chr6:150167959-150169307	SK-N-SH	brain:	n/a	chr6:150168383-150168390
35	KAP1	chr6:150168644-150169192	HEK293	kidney:	n/a	n/a
36	NFIC	chr6:150168607-150169038	HepG2	liver:	n/a	chr6:150168836-150168852 chr6:150168826-150168854 chr6:150168838-150168854 chr6:150168837-150168854
37	JUND	chr6:150168166-150169042	HepG2	liver:	n/a	chr6:150168876-150168888 chr6:150168861-150168869 chr6:150168242-150168252 chr6:150168861-150168869 chr6:150168860-150168870 chr6:150168242-150168252 chr6:150168859-150168871 chr6:150168859-150168870 chr6:150168861-150168868 chr6:150168242-150168252
38	EP300	chr6:150168650-150169115	SK-N-SH_RA	brain:	n/a	chr6:150168861-150168870
39	GATA3	chr6:150168588-150168993	T-47D	breast:	n/a	chr6:150168876-150168885 chr6:150168859-150168868
40	RCOR1	chr6:150168660-150169065	Hela-S3	cervix:	n/a	n/a
41	FOSL2	chr6:150168125-150169056	HepG2	liver:	n/a	chr6:150168876-150168888 chr6:150168861-150168869 chr6:150168242-150168252 chr6:150168861-150168869 chr6:150168860-150168870 chr6:150168242-150168252 chr6:150168859-150168871 chr6:150168861-150168868 chr6:150168242-150168252
42	SP1	chr6:150168573-150169195	A549	lung:	n/a	n/a
43	EP300	chr6:150168528-150169154	A549	lung:	n/a	chr6:150168861-150168870
44	EP300	chr6:150165356-150169491	SK-N-SH	brain:	n/a	chr6:150167715-150167724 chr6:150168861-150168870
45	SIN3AK20	chr6:150168075-150169277	MCF-7	breast:	n/a	n/a
46	REST	chr6:150168472-150168997	A549	lung:	n/a	n/a
47	GABPA	chr6:150168654-150169057	A549	lung:	n/a	n/a
48	TBL1XR1	chr6:150168607-150168964	K562	blood:	n/a	n/a
49	STAT3	chr6:150168636-150169031	MCF10A-Er-Src	breast:	n/a	n/a
50	EP300	chr6:150168592-150169027	T-47D	breast:	n/a	chr6:150168861-150168870

No.	Distal block	Cell Line	Cell type
1	chr6:150166972..150170448-chr6:150175876..150178840,3	K562	blood:
2	chr6:150147289..150147851-chr6:150168101..150168897,2	K562	blood:
3	chr6:150166079..150172408-chr6:150181587..150186360,13	MCF-7	breast:
4	chr6:150164239..150168667-chr6:150168889..150173398,4	K562	blood:
5	chr6:150166110..150169897-chr6:150177295..150181208,4	MCF-7	breast:
6	chr6:150167839..150171816-chr6:150186693..150189063,3	K562	blood:
7	chr6:150160714..150164051-chr6:150166023..150170073,4	MCF-7	breast:
8	chr6:150166050..150170337-chr6:150173456..150176763,5	MCF-7	breast:
9	chr6:150164423..150166949-chr6:150167300..150169014,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273132	TF binding region
ENSG00000273132	Chromatin interaction
ENSG00000120256	Chromatin interaction
ENSG00000268592	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886762	chr6:149866452-150174507	Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv886763	chr6:150091219-150174507	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv1793743	chr6:150167398-150170444	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150073800-150182400	Weak transcription	Fetal Brain Male	brain
2	chr6:150105800-150176400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:150152800-150172600	Weak transcription	Aorta	Aorta
4	chr6:150155800-150182600	Weak transcription	Dnd41	blood
5	chr6:150158800-150176400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:150159200-150172800	Weak transcription	Spleen	Spleen
7	chr6:150162200-150175800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:150162600-150172000	Weak transcription	Liver	Liver
9	chr6:150162600-150177200	Weak transcription	Fetal Lung	lung
10	chr6:150163400-150169200	Enhancers	Placenta	Placenta
11	chr6:150163600-150175800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:150164200-150171800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:150164400-150169000	Weak transcription	Ovary	ovary
14	chr6:150164400-150181800	Weak transcription	Brain Germinal Matrix	brain
15	chr6:150164600-150169600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:150164800-150169400	Enhancers	HMEC	breast
17	chr6:150165000-150181800	Weak transcription	Fetal Brain Female	brain
18	chr6:150165400-150168800	Enhancers	Stomach Smooth Muscle	stomach
19	chr6:150166000-150169200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:150166000-150169400	Enhancers	Brain Angular Gyrus	brain
21	chr6:150166200-150169200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:150166200-150169400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:150166400-150168800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr6:150166400-150169600	Enhancers	Placenta Amnion	Placenta Amnion
25	chr6:150166600-150168800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr6:150167000-150169000	Enhancers	Fetal Muscle Leg	muscle
27	chr6:150167000-150169200	Enhancers	Brain Anterior Caudate	brain
28	chr6:150167000-150169200	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr6:150167000-150169200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr6:150167000-150169200	Enhancers	Fetal Heart	heart
31	chr6:150167000-150169400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:150167000-150169400	Enhancers	HSMMtube	muscle
33	chr6:150167000-150169400	Enhancers	NHDF-Ad	bronchial
34	chr6:150167000-150170000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:150167200-150168800	Enhancers	Rectal Smooth Muscle	rectum
36	chr6:150167200-150169000	Enhancers	Gastric	stomach
37	chr6:150167200-150169000	Enhancers	Lung	lung
38	chr6:150167200-150169200	Enhancers	Adipose Nuclei	Adipose
39	chr6:150167200-150169200	Enhancers	Brain Cingulate Gyrus	brain
40	chr6:150167200-150169200	Enhancers	Brain Hippocampus Middle	brain
41	chr6:150167200-150169400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr6:150167200-150169400	Enhancers	Colon Smooth Muscle	Colon
43	chr6:150167200-150169400	Enhancers	Duodenum Mucosa	Duodenum
44	chr6:150167200-150169400	Enhancers	Stomach Mucosa	stomach
45	chr6:150167400-150169200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr6:150167400-150169400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:150167400-150169400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:150167400-150169400	Enhancers	HepG2	liver
49	chr6:150167400-150169800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:150167600-150169200	Enhancers	Skeletal Muscle Female	skeletal muscle

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