Variant report

Variant	rs549338085
Chromosome Location	chr7:150782887-150782888
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	PML	chr7:150782682-150783411	K562	blood:	n/a	n/a
2	HDAC2	chr7:150782798-150783587	MCF-7	breast:	n/a	n/a
3	MXI1	chr7:150782041-150783707	K562	blood:	n/a	chr7:150782809-150782818 chr7:150782811-150782820
4	POLR2A	chr7:150782163-150783841	HepG2	liver:	n/a	n/a
5	TBL1XR1	chr7:150782398-150783337	K562	blood:	n/a	n/a
6	POLR2A	chr7:150782787-150783783	NB4	blood:	n/a	n/a
7	PML	chr7:150782796-150783457	GM12878	blood:	n/a	n/a
8	RCOR1	chr7:150782488-150783698	K562	blood:	n/a	n/a
9	POLR2A	chr7:150782028-150787573	IMR90	lung:	n/a	n/a
10	EGR1	chr7:150782862-150783826	HCT-116	colon:	n/a	chr7:150783634-150783643 chr7:150783678-150783688 chr7:150783496-150783506 chr7:150783496-150783505 chr7:150783672-150783682 chr7:150783493-150783506 chr7:150783493-150783506 chr7:150783509-150783518
11	ZBTB7A	chr7:150782729-150783636	ECC-1	luminal epithelium:	n/a	n/a
12	GTF2F1	chr7:150782683-150783332	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr7:150782457-150783777	K562	blood:	n/a	n/a
14	PML	chr7:150782613-150783420	K562	blood:	n/a	n/a
15	TFAP2A	chr7:150782674-150783438	Hela-S3	cervix:	n/a	chr7:150783286-150783298 chr7:150783157-150783167 chr7:150783286-150783298 chr7:150783286-150783298 chr7:150783286-150783298
16	CEBPB	chr7:150782773-150782938	K562	blood:	n/a	n/a
17	MAZ	chr7:150782586-150783733	K562	blood:	n/a	chr7:150782810-150782819 chr7:150782805-150782824 chr7:150782809-150782819 chr7:150782810-150782819 chr7:150782809-150782820 chr7:150783586-150783596 chr7:150782810-150782819 chr7:150782810-150782820
18	POLR2A	chr7:150782600-150783409	U87	brain:	n/a	n/a
19	TBP	chr7:150782672-150783370	Hela-S3	cervix:	n/a	n/a
20	GATA3	chr7:150782766-150783702	MCF-7	breast:	n/a	n/a
21	MAX	chr7:150782658-150783768	Hela-S3	cervix:	n/a	chr7:150782810-150782819 chr7:150782805-150782824 chr7:150782809-150782819 chr7:150782810-150782819 chr7:150782809-150782820 chr7:150783586-150783596 chr7:150782810-150782819 chr7:150782810-150782820
22	IRF1	chr7:150782495-150783562	K562	blood:	n/a	chr7:150782512-150782521 chr7:150782606-150782615 chr7:150783230-150783241
23	POLR2A	chr7:150782794-150783666	K562	blood:	n/a	n/a
24	ZBTB7A	chr7:150782512-150785231	K562	blood:	n/a	n/a
25	GTF2B	chr7:150782834-150783383	K562	blood:	n/a	n/a
26	TEAD4	chr7:150782366-150782993	K562	blood:	n/a	n/a
27	POLR2A	chr7:150782840-150783736	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:150782465-150783749	K562	blood:	n/a	n/a
29	POLR2A	chr7:150782628-150783669	SK-N-MC	brain:	n/a	n/a
30	POLR2A	chr7:150782427-150783444	K562	blood:	n/a	n/a
31	TFAP2C	chr7:150782613-150783426	Hela-S3	cervix:	n/a	chr7:150783285-150783300
32	TBP	chr7:150782749-150783218	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr7:150782322-150783827	K562	blood:	n/a	n/a
34	POLR2A	chr7:150782719-150783453	H1-hESC	embryonic stem cell:	n/a	n/a
35	TCF12	chr7:150782639-150783557	A549	lung:	n/a	n/a
36	TAF1	chr7:150782749-150783777	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr7:150782855-150783401	ECC-1	luminal epithelium:	n/a	n/a
38	MAZ	chr7:150782803-150783701	HepG2	liver:	n/a	chr7:150782810-150782819 chr7:150782805-150782824 chr7:150782809-150782819 chr7:150782810-150782819 chr7:150782809-150782820 chr7:150783586-150783596 chr7:150782810-150782819 chr7:150782810-150782820
39	CTCF	chr7:150782840-150782990	BJ	skin:	n/a	n/a
40	POLR2A	chr7:150782169-150787040	HUVEC	blood vessel:	n/a	n/a
41	HEY1	chr7:150782481-150783438	K562	blood:	n/a	n/a
42	MAX	chr7:150782504-150783820	A549	lung:	n/a	chr7:150782810-150782819 chr7:150782805-150782824 chr7:150782809-150782819 chr7:150782810-150782819 chr7:150782809-150782820 chr7:150783586-150783596 chr7:150782810-150782819 chr7:150782810-150782820
43	E2F6	chr7:150782622-150783746	K562	blood:	n/a	chr7:150783496-150783506 chr7:150783492-150783501 chr7:150783700-150783709 chr7:150783243-150783255
44	TAF1	chr7:150782671-150783245	H1-hESC	embryonic stem cell:	n/a	n/a
45	ZNF263	chr7:150782675-150783340	HEK293-T-REx	kidney:	n/a	n/a
46	USF2	chr7:150782591-150783119	Hela-S3	cervix:	n/a	chr7:150782808-150782819
47	MYC	chr7:150782461-150783719	K562	blood:	n/a	chr7:150782810-150782819 chr7:150782805-150782824 chr7:150782809-150782819 chr7:150782810-150782819 chr7:150782809-150782820 chr7:150783586-150783596 chr7:150782810-150782819 chr7:150782810-150782820
48	NFYA	chr7:150782723-150783336	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr7:150782721-150783465	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr7:150782860-150783010	HCPEpiC	choroid plexus:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150781876..150784323-chr8:125460204..125463130,2	MCF-7	breast:
2	chr17:2239559..2240266-chr7:150782649..150783588,2	HCT-116	colon:
3	chr10:112631125..112631745-chr7:150782860..150783599,2	NB4	blood:

Variant related genes	Relation type
AGAP3	TF binding region
TMUB1	TF binding region
FASTK	TF binding region
ENSG00000183665	Chromatin interaction
ENSG00000167721	Chromatin interaction
ENSG00000150593	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150781000-150783000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:150781000-150783000	Enhancers	Fetal Heart	heart
3	chr7:150782000-150783000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:150782200-150783000	Flanking Active TSS	Hela-S3	cervix
5	chr7:150782200-150783200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:150782200-150783200	Enhancers	Stomach Mucosa	stomach
7	chr7:150782200-150783200	Flanking Active TSS	K562	blood
8	chr7:150782200-150783400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:150782400-150783000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:150782400-150783000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:150782400-150783000	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr7:150782400-150783000	Enhancers	Gastric	stomach
13	chr7:150782400-150783000	Flanking Active TSS	HepG2	liver
14	chr7:150782400-150783200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:150782400-150783200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:150782400-150783200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:150782400-150783200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr7:150782400-150783200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:150782400-150783200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:150782400-150783200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:150782400-150783200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr7:150782400-150783200	Flanking Active TSS	Fetal Brain Male	brain
23	chr7:150782400-150783200	Active TSS	Fetal Kidney	kidney
24	chr7:150782400-150783200	Flanking Active TSS	Fetal Muscle Leg	muscle
25	chr7:150782400-150783200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr7:150782400-150783200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr7:150782400-150783200	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr7:150782400-150783400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr7:150782600-150783000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:150782600-150783000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:150782600-150783000	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr7:150782600-150783000	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr7:150782600-150783000	Enhancers	Esophagus	oesophagus
34	chr7:150782600-150783000	Flanking Active TSS	Fetal Lung	lung
35	chr7:150782600-150783000	Flanking Active TSS	Fetal Stomach	stomach
36	chr7:150782600-150783000	Enhancers	Lung	lung
37	chr7:150782600-150783000	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr7:150782600-150783000	Enhancers	Small Intestine	intestine
39	chr7:150782600-150783000	Flanking Active TSS	GM12878-XiMat	blood
40	chr7:150782600-150783000	Flanking Active TSS	HSMMtube	muscle
41	chr7:150782600-150783000	Flanking Active TSS	Osteobl	bone
42	chr7:150782600-150783200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr7:150782600-150783200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:150782600-150783200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr7:150782600-150783200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:150782600-150783200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr7:150782600-150783200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:150782600-150783200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:150782600-150783200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:150782600-150783200	Flanking Active TSS	Adipose Nuclei	Adipose

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