Variant report

Variant	rs555651682
Chromosome Location	chr7:150783903-150783904
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	POLR2A	chr7:150782028-150787573	IMR90	lung:	n/a	n/a
2	MAZ	chr7:150783896-150786994	IMR90	lung:	n/a	chr7:150784860-150784870 chr7:150785730-150785740 chr7:150784708-150784715
3	ZBTB7A	chr7:150782512-150785231	K562	blood:	n/a	n/a
4	POLR2A	chr7:150782169-150787040	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr7:150782684-150787036	HUVEC	blood vessel:	n/a	n/a
6	MXI1	chr7:150781826-150785809	IMR90	lung:	n/a	chr7:150782809-150782818 chr7:150782811-150782820
7	UBTF	chr7:150782536-150785309	K562	blood:	n/a	n/a
8	REST	chr7:150783115-150784931	H1-neurons	neurons:	n/a	chr7:150784806-150784816 chr7:150784512-150784525 chr7:150783263-150783272 chr7:150784670-150784683 chr7:150784615-150784628
9	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
10	POLR2A	chr7:150783868-150785265	K562	blood:	n/a	n/a
11	MXI1	chr7:150781831-150783920	SK-N-SH	brain:	n/a	chr7:150782809-150782818 chr7:150782811-150782820
12	POLR2A	chr7:150782935-150783925	A549	lung:	n/a	n/a
13	CHD1	chr7:150783491-150787518	IMR90	lung:	n/a	n/a
14	HA-E2F1	chr7:150783049-150784891	Hela-S3	cervix:	n/a	chr7:150783496-150783506 chr7:150783492-150783501 chr7:150783700-150783709 chr7:150784452-150784467 chr7:150783243-150783255
15	GABPA	chr7:150783888-150784355	K562	blood:	n/a	n/a
16	CCNT2	chr7:150782931-150785064	K562	blood:	n/a	chr7:150783672-150783681 chr7:150784355-150784364
17	POLR2A	chr7:150782734-150785193	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150783881-150783931	A549	lung:	n/a
2	chr7:150783881-150783931	AG04450	lung:	fetal
3	chr7:150783881-150783931	HMEC	breast:	n/a
4	chr7:150783881-150783931	HRE	kidney:	n/a
5	chr7:150783881-150783931	NHDF-neo	bronchial:	n/a
6	chr7:150783881-150783931	IMR90	lung:	fetal
7	chr7:150783881-150783931	K562	blood:	n/a
8	chr7:150783881-150783931	MCF-7	breast:	n/a
9	chr7:150783881-150783931	BE2_C	brain:	n/a
10	chr7:150783881-150783931	RPTEC	kidney:	n/a
11	chr7:150783881-150783931	H1-hESC	embryonic stem cell:	embryo
12	chr7:150783881-150783931	AG04449	skin:	fetal
13	chr7:150783881-150783931	MCF10A-Er-Src	breast:	n/a
14	chr7:150783881-150783931	HPAEpiC	pulmonary alveolar:	n/a
15	chr7:150783881-150783931	NHBE	bronchial:	n/a
16	chr7:150783881-150783931	SKMC	muscle:	n/a
17	chr7:150783881-150783931	SK-N-MC	brain:	n/a
18	chr7:150783881-150783931	ProgFib	skin:	n/a
19	chr7:150783881-150783931	GM12878	blood:	n/a
20	chr7:150783881-150783931	HAEpiC	amniotic membrane:	n/a
21	chr7:150783881-150783931	AoSMC	blood vessel:	n/a
22	chr7:150783881-150783931	HEEpiC	esophagus:	n/a
23	chr7:150783881-150783931	NB4	blood:	n/a
24	chr7:150783881-150783931	SAEC	small airway:	n/a
25	chr7:150783881-150783931	AG09319	gingival:	n/a
26	chr7:150783881-150783931	HNPCEpiC	eye:	n/a
27	chr7:150783881-150783931	HIPEpiC	eye:	n/a
28	chr7:150783881-150783931	HCT-116	colon:	n/a
29	chr7:150783881-150783931	HL-60	blood:	n/a
30	chr7:150783881-150783931	PANC-1	pancreas:	n/a
31	chr7:150783881-150783931	GM19239	blood:	n/a
32	chr7:150783881-150783931	NH-A	brain:	n/a
33	chr7:150783881-150783931	ECC-1	luminal epithelium:	n/a
34	chr7:150783881-150783931	PrEC	prostate:	n/a
35	chr7:150783881-150783931	GM06990	blood:	n/a
36	chr7:150783881-150783931	U87	brain:	n/a
37	chr7:150783881-150783931	HRPEpiC	eye:	n/a
38	chr7:150783881-150783931	BJ	skin:	n/a
39	chr7:150783881-150783931	LNCaP	prostate:	n/a
40	chr7:150783881-150783931	HCM	heart:	n/a
41	chr7:150783881-150783931	PFSK-1	brain:	n/a
42	chr7:150783881-150783931	HRCEpiC	kidney:	n/a
43	chr7:150783881-150783931	GM12892	blood:	n/a
44	chr7:150783881-150783931	HCPEpiC	choroid plexus:	n/a
45	chr7:150783881-150783931	GM12891	blood:	n/a
46	chr7:150783881-150783931	HepG2	liver:	n/a
47	chr7:150783881-150783931	AG10803	skin:	n/a
48	chr7:150783881-150783931	AG09309	skin:	n/a
49	chr7:150783881-150783931	HEK293	kidney:	embryo
50	chr7:150783881-150783931	HUVEC	blood vessel:	n/a

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
TMUB1	TF binding region
AGAP3	TF binding region
AGAP3	CpG island
TMUB1	CpG island
ENSG00000164889	Chromatin interaction
ENSG00000183665	Chromatin interaction
ENSG00000128713	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:122 , 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	chr7:150782800-150784000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:150782800-150784000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr7:150782800-150784000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr7:150782800-150784000	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr7:150782800-150784200	Active TSS	H1 Cell Line	embryonic stem cell
7	chr7:150782800-150784200	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr7:150782800-150784800	Active TSS	Ovary	ovary
9	chr7:150782800-150784800	Active TSS	Psoas Muscle	Psoas
10	chr7:150782800-150785000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr7:150782800-150785000	Active TSS	Aorta	Aorta
12	chr7:150782800-150785000	Active TSS	Fetal Brain Female	brain
13	chr7:150782800-150785400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr7:150782800-150785400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:150783000-150784000	Active TSS	HepG2	liver
16	chr7:150783000-150784200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:150783000-150784800	Active TSS	Brain Anterior Caudate	brain
18	chr7:150783000-150784800	Active TSS	Brain Cingulate Gyrus	brain
19	chr7:150783000-150784800	Active TSS	Brain Hippocampus Middle	brain
20	chr7:150783000-150784800	Active TSS	Esophagus	oesophagus
21	chr7:150783000-150784800	Weak transcription	Fetal Heart	heart
22	chr7:150783000-150784800	Active TSS	Fetal Lung	lung
23	chr7:150783000-150784800	Active TSS	Fetal Stomach	stomach
24	chr7:150783000-150784800	Active TSS	GM12878-XiMat	blood
25	chr7:150783000-150784800	Active TSS	Osteobl	bone
26	chr7:150783000-150785000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:150783000-150785000	Active TSS	Brain Angular Gyrus	brain
28	chr7:150783000-150785000	Active TSS	Brain Substantia Nigra	brain
29	chr7:150783000-150785000	Active TSS	Small Intestine	intestine
30	chr7:150783000-150785000	Active TSS	Hela-S3	cervix
31	chr7:150783000-150785000	Active TSS	NHEK	skin
32	chr7:150783000-150785200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:150783000-150785200	Bivalent/Poised TSS	Thymus	Thymus
34	chr7:150783000-150785200	Active TSS	HSMMtube	muscle
35	chr7:150783000-150786400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:150783200-150784000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:150783200-150784000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:150783200-150784000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:150783200-150784000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr7:150783200-150784000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr7:150783200-150784000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:150783200-150784000	Weak transcription	Fetal Brain Male	brain
43	chr7:150783200-150784000	Weak transcription	Fetal Kidney	kidney
44	chr7:150783200-150784000	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr7:150783200-150784000	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr7:150783200-150784000	Weak transcription	Stomach Mucosa	stomach
47	chr7:150783200-150784000	Active TSS	K562	blood
48	chr7:150783200-150784200	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr7:150783200-150784200	Active TSS	Primary monocytes fromperipheralblood	blood
50	chr7:150783200-150784200	Active TSS	Primary B cells from peripheral blood	blood

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