Variant report

Variant	rs138322898
Chromosome Location	chr7:150784028-150784029
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	chr7:150784015-150785218	GM18505	blood:	n/a	n/a
2	ATF2	chr7:150784006-150784319	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:150782028-150787573	IMR90	lung:	n/a	n/a
4	CUX1	chr7:150784028-150784242	K562	blood:	n/a	n/a
5	MAZ	chr7:150783896-150786994	IMR90	lung:	n/a	chr7:150784860-150784870 chr7:150785730-150785740 chr7:150784708-150784715
6	MAX	chr7:150783956-150785022	MCF-7	breast:	n/a	chr7:150784860-150784870 chr7:150784708-150784715
7	GATA2	chr7:150783930-150785303	SH-SY5Y	brain:	n/a	chr7:150784932-150784942
8	TAF1	chr7:150784012-150784416	PFSK-1	brain:	n/a	n/a
9	ETS1	chr7:150783950-150785047	K562	blood:	n/a	chr7:150784852-150784861 chr7:150784932-150784941 chr7:150784409-150784420 chr7:150784932-150784946 chr7:150784933-150784944 chr7:150784479-150784492
10	MAX	chr7:150783947-150784472	H1-hESC	embryonic stem cell:	n/a	n/a
11	SIN3A	chr7:150783969-150785686	H1-hESC	embryonic stem cell:	n/a	chr7:150784683-150784692 chr7:150784612-150784625 chr7:150784807-150784816 chr7:150784512-150784525 chr7:150784457-150784468 chr7:150784589-150784598 chr7:150784582-150784595
12	ZBTB7A	chr7:150782512-150785231	K562	blood:	n/a	n/a
13	POLR2A	chr7:150784006-150785211	GM18951	blood:	n/a	n/a
14	MAX	chr7:150783987-150785170	H1-hESC	embryonic stem cell:	n/a	chr7:150784860-150784870 chr7:150784708-150784715
15	POLR2A	chr7:150782169-150787040	HUVEC	blood vessel:	n/a	n/a
16	E2F6	chr7:150783939-150784945	K562	blood:	n/a	chr7:150784452-150784467
17	MAX	chr7:150783947-150785228	ECC-1	luminal epithelium:	n/a	chr7:150784860-150784870 chr7:150784708-150784715
18	POLR2A	chr7:150783994-150785240	GM12892	blood:	n/a	n/a
19	POLR2A	chr7:150783965-150785224	HL-60	blood:	n/a	n/a
20	GATA3	chr7:150783936-150784285	T-47D	breast:	n/a	n/a
21	POLR2A	chr7:150782684-150787036	HUVEC	blood vessel:	n/a	n/a
22	HDAC2	chr7:150784002-150784218	K562	blood:	n/a	n/a
23	ELF1	chr7:150783980-150785348	GM12878	blood:	n/a	chr7:150784518-150784530 chr7:150784861-150784873
24	CBX3	chr7:150783950-150785166	K562	blood:	n/a	n/a
25	MXI1	chr7:150781826-150785809	IMR90	lung:	n/a	chr7:150782809-150782818 chr7:150782811-150782820
26	POLR2A	chr7:150783950-150785188	Hela-S3	cervix:	n/a	n/a
27	GATA3	chr7:150783965-150784380	MCF-7	breast:	n/a	n/a
28	MAX	chr7:150783966-150784872	ECC-1	luminal epithelium:	n/a	chr7:150784860-150784870 chr7:150784708-150784715
29	POLR2A	chr7:150783957-150785134	A549	lung:	n/a	n/a
30	MAX	chr7:150783918-150785423	MCF-7	breast:	n/a	chr7:150784860-150784870 chr7:150784708-150784715
31	SIN3AK20	chr7:150783997-150784358	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr7:150783936-150785252	GM12878	blood:	n/a	n/a
33	STAT5A	chr7:150784003-150784319	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:150783961-150785132	K562	blood:	n/a	n/a
35	UBTF	chr7:150782536-150785309	K562	blood:	n/a	n/a
36	POLR2A	chr7:150783926-150784261	HUVEC	blood vessel:	n/a	n/a
37	MXI1	chr7:150784018-150785140	HepG2	liver:	n/a	n/a
38	SIN3AK20	chr7:150783937-150785245	K562	blood:	n/a	n/a
39	MAX	chr7:150783955-150785358	A549	lung:	n/a	chr7:150784860-150784870 chr7:150784708-150784715
40	REST	chr7:150783115-150784931	H1-neurons	neurons:	n/a	chr7:150784806-150784816 chr7:150784512-150784525 chr7:150783263-150783272 chr7:150784670-150784683 chr7:150784615-150784628
41	MAX	chr7:150783965-150785844	K562	blood:	n/a	chr7:150784860-150784870 chr7:150785730-150785740 chr7:150784708-150784715
42	MAX	chr7:150783978-150784871	K562	blood:	n/a	chr7:150784860-150784870 chr7:150784708-150784715
43	TEAD4	chr7:150783962-150785709	K562	blood:	n/a	n/a
44	CTCF	chr7:150782462-150786051	SK-N-SH	brain:	n/a	chr7:150785724-150785737 chr7:150784603-150784616 chr7:150783569-150783582 chr7:150785103-150785116 chr7:150783644-150783657
45	POLR2A	chr7:150783868-150785265	K562	blood:	n/a	n/a
46	HMGN3	chr7:150783985-150785163	K562	blood:	n/a	n/a
47	ETS1	chr7:150783924-150785148	K562	blood:	n/a	chr7:150784852-150784861 chr7:150784932-150784941 chr7:150784409-150784420 chr7:150784932-150784946 chr7:150784933-150784944 chr7:150784479-150784492
48	TCF12	chr7:150783923-150784550	A549	lung:	n/a	n/a
49	BCLAF1	chr7:150784019-150784933	K562	blood:	n/a	chr7:150784534-150784547 chr7:150784653-150784662 chr7:150784539-150784548 chr7:150784798-150784811 chr7:150784589-150784602
50	MAX	chr7:150783969-150785287	SK-N-SH	brain:	n/a	chr7:150784860-150784870 chr7:150784708-150784715

No.	Distal block	Cell Line	Cell type
1	chr7:150756252..150756892-chr7:150783335..150784303,2	MCF-7	breast:
2	chr7:150781876..150784323-chr8:125460204..125463130,2	MCF-7	breast:
3	chr2:176970818..176972344-chr7:150783415..150786147,2	MCF-7	breast:

Variant related genes	Relation type
AGAP3	TF binding region
TMUB1	TF binding region
ENSG00000164889	Chromatin interaction
ENSG00000128713	Chromatin interaction
ENSG00000183665	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
4	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
6	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv889479	chr7:150736382-150785321	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv889480	chr7:150736382-150797581	Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
12	nsv1028023	chr7:150738624-150790517	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
13	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
14	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
15	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
16	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
17	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
18	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
19	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription 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 lncRNA	45 gene(s)	inside rSNPs	diseases
20	nsv889483	chr7:150773165-150787046	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
21	nsv889484	chr7:150774308-150787046	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
22	nsv889485	chr7:150774308-150788304	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
23	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
24	esv3343113	chr7:150782644-150785192	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
25	esv3418337	chr7:150782769-150784967	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150782600-150786600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:150782800-150784200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr7:150782800-150784200	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr7:150782800-150784800	Active TSS	Ovary	ovary
5	chr7:150782800-150784800	Active TSS	Psoas Muscle	Psoas
6	chr7:150782800-150785000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr7:150782800-150785000	Active TSS	Aorta	Aorta
8	chr7:150782800-150785000	Active TSS	Fetal Brain Female	brain
9	chr7:150782800-150785400	Active TSS	H9 Cell Line	embryonic stem cell
10	chr7:150782800-150785400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:150783000-150784200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:150783000-150784800	Active TSS	Brain Anterior Caudate	brain
13	chr7:150783000-150784800	Active TSS	Brain Cingulate Gyrus	brain
14	chr7:150783000-150784800	Active TSS	Brain Hippocampus Middle	brain
15	chr7:150783000-150784800	Active TSS	Esophagus	oesophagus
16	chr7:150783000-150784800	Weak transcription	Fetal Heart	heart
17	chr7:150783000-150784800	Active TSS	Fetal Lung	lung
18	chr7:150783000-150784800	Active TSS	Fetal Stomach	stomach
19	chr7:150783000-150784800	Active TSS	GM12878-XiMat	blood
20	chr7:150783000-150784800	Active TSS	Osteobl	bone
21	chr7:150783000-150785000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:150783000-150785000	Active TSS	Brain Angular Gyrus	brain
23	chr7:150783000-150785000	Active TSS	Brain Substantia Nigra	brain
24	chr7:150783000-150785000	Active TSS	Small Intestine	intestine
25	chr7:150783000-150785000	Active TSS	Hela-S3	cervix
26	chr7:150783000-150785000	Active TSS	NHEK	skin
27	chr7:150783000-150785200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:150783000-150785200	Bivalent/Poised TSS	Thymus	Thymus
29	chr7:150783000-150785200	Active TSS	HSMMtube	muscle
30	chr7:150783000-150786400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:150783200-150784200	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr7:150783200-150784200	Active TSS	Primary monocytes fromperipheralblood	blood
33	chr7:150783200-150784200	Active TSS	Primary B cells from peripheral blood	blood
34	chr7:150783200-150784200	Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr7:150783200-150784200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:150783200-150784200	Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr7:150783200-150784200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:150783200-150784200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:150783200-150784200	Active TSS	Fetal Muscle Trunk	muscle
40	chr7:150783200-150784200	Active TSS	Placenta Amnion	Placenta Amnion
41	chr7:150783200-150784200	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr7:150783200-150784200	Active TSS	Stomach Smooth Muscle	stomach
43	chr7:150783200-150784200	Active TSS	NH-A	brain
44	chr7:150783200-150784400	Active TSS	Fetal Muscle Leg	muscle
45	chr7:150783200-150784600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:150783200-150784800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:150783200-150784800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:150783200-150784800	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr7:150783200-150784800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr7:150783200-150784800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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