Variant report

Variant	rs61730149
Chromosome Location	chr7:150939912-150939913
allele	A/G
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	chr7:150939691-150940064	SK-N-SH	brain:	n/a	n/a
2	CEBPB	chr7:150939814-150940334	Hela-S3	cervix:	n/a	chr7:150939998-150940007 chr7:150939997-150940008 chr7:150939996-150940007 chr7:150939996-150940009 chr7:150939996-150940009
3	POLR2A	chr7:150938789-150940649	GM12878	blood:	n/a	n/a
4	CEBPB	chr7:150939718-150940297	A549	lung:	n/a	chr7:150939998-150940007 chr7:150939997-150940008 chr7:150939996-150940007 chr7:150939996-150940009 chr7:150939996-150940009
5	CEBPB	chr7:150939828-150940232	A549	lung:	n/a	chr7:150939998-150940007 chr7:150939997-150940008 chr7:150939996-150940007 chr7:150939996-150940009 chr7:150939996-150940009
6	POLR2A	chr7:150939854-150940435	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPB	chr7:150939817-150940216	HepG2	liver:	n/a	chr7:150939998-150940007 chr7:150939997-150940008 chr7:150939996-150940007 chr7:150939996-150940009 chr7:150939996-150940009
8	CEBPB	chr7:150939812-150940238	HepG2	liver:	n/a	chr7:150939998-150940007 chr7:150939997-150940008 chr7:150939996-150940007 chr7:150939996-150940009 chr7:150939996-150940009
9	CEBPB	chr7:150939797-150940174	ECC-1	luminal epithelium:	n/a	chr7:150939998-150940007 chr7:150939997-150940008 chr7:150939996-150940007 chr7:150939996-150940009 chr7:150939996-150940009
10	POLR2A	chr7:150939283-150940512	MCF-7	breast:	n/a	n/a
11	CEBPB	chr7:150939848-150940230	H1-hESC	embryonic stem cell:	n/a	chr7:150939998-150940007 chr7:150939997-150940008 chr7:150939996-150940007 chr7:150939996-150940009 chr7:150939996-150940009
12	HNF4G	chr7:150939814-150940046	HepG2	liver:	n/a	chr7:150939967-150939975
13	CEBPB	chr7:150939890-150940168	HepG2	liver:	n/a	chr7:150939998-150940007 chr7:150939997-150940008 chr7:150939996-150940007 chr7:150939996-150940009 chr7:150939996-150940009
14	POLR2A	chr7:150935363-150940669	U87	brain:	n/a	n/a
15	CEBPB	chr7:150939863-150940082	HepG2	liver:	n/a	chr7:150939998-150940007 chr7:150939997-150940008 chr7:150939996-150940007 chr7:150939996-150940009 chr7:150939996-150940009
16	CEBPB	chr7:150939820-150940359	MCF-7	breast:	n/a	chr7:150939998-150940007 chr7:150939997-150940008 chr7:150939996-150940007 chr7:150939996-150940009 chr7:150939996-150940009
17	RCOR1	chr7:150939866-150940217	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr7:150935782-150941408	U87	brain:	n/a	n/a
19	POLR2A	chr7:150932336-150940594	K562	blood:	n/a	n/a
20	POLR2A	chr7:150938453-150940291	HepG2	liver:	n/a	n/a
21	CEBPB	chr7:150939807-150940211	K562	blood:	n/a	chr7:150939998-150940007 chr7:150939997-150940008 chr7:150939996-150940007 chr7:150939996-150940009 chr7:150939996-150940009
22	POLR2A	chr7:150932457-150941238	U87	brain:	n/a	n/a
23	POLR2A	chr7:150938144-150940517	GM12891	blood:	n/a	n/a
24	POLR2A	chr7:150937146-150940087	GM12891	blood:	n/a	n/a
25	CEBPB	chr7:150939820-150940292	IMR90	lung:	n/a	chr7:150939998-150940007 chr7:150939997-150940008 chr7:150939996-150940007 chr7:150939996-150940009 chr7:150939996-150940009
26	CEBPB	chr7:150939767-150940181	K562	blood:	n/a	chr7:150939998-150940007 chr7:150939997-150940008 chr7:150939996-150940007 chr7:150939996-150940009 chr7:150939996-150940009
27	POLR2A	chr7:150938183-150939971	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr7:150939467-150940161	HCT-116	colon:	n/a	n/a
29	POLR2A	chr7:150939800-150940192	ECC-1	luminal epithelium:	n/a	n/a
30	CEBPB	chr7:150939819-150940181	A549	lung:	n/a	chr7:150939998-150940007 chr7:150939997-150940008 chr7:150939996-150940007 chr7:150939996-150940009 chr7:150939996-150940009
31	PBX3	chr7:150938715-150940531	SK-N-SH	brain:	n/a	n/a
32	TEAD4	chr7:150939828-150940182	HepG2	liver:	n/a	chr7:150939983-150939992
33	POLR2A	chr7:150938428-150940428	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr7:150935932-150940768	SK-N-SH	brain:	n/a	n/a
35	CEBPB	chr7:150939889-150940111	K562	blood:	n/a	chr7:150939998-150940007 chr7:150939997-150940008 chr7:150939996-150940007 chr7:150939996-150940009 chr7:150939996-150940009
36	ZNF263	chr7:150939899-150940345	HEK293-T-REx	kidney:	n/a	chr7:150940174-150940183
37	POLR2A	chr7:150938424-150940130	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150938571..150942838-chr7:150950941..150954111,4	MCF-7	breast:

Variant related genes	Relation type
SMARCD3	TF binding region
ENSG00000082014	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10230222	1.00[AFR][1000 genomes]
rs10249402	1.00[AFR][1000 genomes]
rs28774985	1.00[AFR][1000 genomes]

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	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	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
3	nsv609035	chr7:150896223-150955765	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv889487	chr7:150922952-150988172	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
5	nsv889488	chr7:150926775-150955765	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150930600-150940000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:150931000-150944600	Weak transcription	Fetal Kidney	kidney
3	chr7:150931200-150940000	Strong transcription	Fetal Intestine Small	intestine
4	chr7:150931200-150940000	Weak transcription	Stomach Mucosa	stomach
5	chr7:150931200-150940200	Strong transcription	Fetal Stomach	stomach
6	chr7:150931400-150940200	Weak transcription	Small Intestine	intestine
7	chr7:150931400-150940200	Strong transcription	NHLF	lung
8	chr7:150931600-150940000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr7:150931600-150940200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:150931600-150940200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:150931600-150940800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:150931600-150944400	Weak transcription	Hela-S3	cervix
13	chr7:150932000-150940000	Strong transcription	Brain Anterior Caudate	brain
14	chr7:150932200-150940000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:150932200-150940000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:150932400-150940200	Strong transcription	Stomach Smooth Muscle	stomach
17	chr7:150932600-150940200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:150932800-150940000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:150932800-150940400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:150932800-150940800	Weak transcription	HUVEC	blood vessel
21	chr7:150932800-150942000	Weak transcription	Psoas Muscle	Psoas
22	chr7:150933000-150940200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:150933400-150940000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:150933400-150940800	Strong transcription	HSMM	muscle
25	chr7:150933800-150940000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:150933800-150940200	Strong transcription	Fetal Lung	lung
27	chr7:150934200-150940000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr7:150935000-150940200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:150935400-150940000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:150936000-150940000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr7:150936200-150940000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:150936200-150940400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:150936400-150941200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:150936400-150942200	Weak transcription	HMEC	breast
35	chr7:150936600-150940000	Weak transcription	GM12878-XiMat	blood
36	chr7:150936600-150940200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:150936800-150940400	Weak transcription	Liver	Liver
38	chr7:150936800-150940800	Weak transcription	Brain Substantia Nigra	brain
39	chr7:150936800-150941000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr7:150936800-150941800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr7:150937000-150940200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:150937200-150940000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr7:150937200-150940000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr7:150937200-150940200	Weak transcription	Adipose Nuclei	Adipose
45	chr7:150937400-150940000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr7:150937400-150940400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:150937400-150941200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr7:150937600-150941200	Weak transcription	Right Atrium	heart
49	chr7:150937800-150940000	Weak transcription	Thymus	Thymus
50	chr7:150937800-150940000	Strong transcription	HSMMtube	muscle

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