Variant report

Variant	rs11973593
Chromosome Location	chr7:150923942-150923943
allele	C/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	chr7:150923928-150924807	Gliobla	brain:	n/a	n/a
2	ZKSCAN1	chr7:150923940-150924797	Hela-S3	cervix:	n/a	n/a
3	SP1	chr7:150923923-150924799	A549	lung:	n/a	chr7:150924481-150924495 chr7:150924484-150924496 chr7:150924484-150924496 chr7:150924479-150924488 chr7:150924484-150924495 chr7:150924485-150924494
4	CEBPB	chr7:150923896-150924719	H1-hESC	embryonic stem cell:	n/a	chr7:150924320-150924328
5	TCF12	chr7:150923703-150924976	A549	lung:	n/a	n/a
6	TBL1XR1	chr7:150923842-150924689	K562	blood:	n/a	n/a
7	MTA3	chr7:150923608-150924979	GM12878	blood:	n/a	n/a
8	POLR2A	chr7:150923893-150925071	MCF-7	breast:	n/a	n/a
9	POLR2A	chr7:150923848-150925013	HUVEC	blood vessel:	n/a	n/a
10	CHD2	chr7:150923879-150924801	GM12878	blood:	n/a	n/a
11	CREB1	chr7:150923893-150925164	GM12878	blood:	n/a	chr7:150924451-150924464
12	MAZ	chr7:150923780-150924813	GM12878	blood:	n/a	chr7:150924483-150924493
13	POLR2A	chr7:150923891-150924897	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr7:150923800-150924899	ECC-1	luminal epithelium:	n/a	n/a
15	MAX	chr7:150923648-150924939	MCF-7	breast:	n/a	chr7:150924483-150924493 chr7:150923705-150923715
16	ETS1	chr7:150923795-150924794	K562	blood:	n/a	chr7:150924542-150924555 chr7:150924678-150924691 chr7:150924679-150924692
17	GABPA	chr7:150923616-150924677	K562	blood:	n/a	n/a
18	CREB1	chr7:150923869-150924946	GM12878	blood:	n/a	chr7:150924451-150924464
19	CEBPB	chr7:150923567-150924747	K562	blood:	n/a	chr7:150924320-150924328
20	ELF1	chr7:150923716-150924896	K562	blood:	n/a	chr7:150924175-150924186
21	MAX	chr7:150923603-150925005	K562	blood:	n/a	chr7:150924483-150924493 chr7:150923705-150923715
22	POLR2A	chr7:150923886-150924843	GM15510	blood:	n/a	n/a
23	POLR2A	chr7:150923899-150925399	SK-N-SH	brain:	n/a	n/a
24	MAX	chr7:150923742-150925010	A549	lung:	n/a	chr7:150924483-150924493
25	MYC	chr7:150923799-150924927	K562	blood:	n/a	chr7:150924483-150924493
26	EGR1	chr7:150923930-150924856	K562	blood:	n/a	chr7:150924479-150924494 chr7:150924542-150924566 chr7:150924093-150924106 chr7:150924481-150924495 chr7:150924482-150924492 chr7:150924480-150924493 chr7:150924679-150924703 chr7:150924355-150924379 chr7:150924480-150924493
27	FOXM1	chr7:150923910-150924751	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:150923863-150924983	PFSK-1	brain:	n/a	n/a
29	MAZ	chr7:150922797-150925153	IMR90	lung:	n/a	chr7:150924483-150924493 chr7:150923705-150923715
30	MAX	chr7:150923890-150924828	NB4	blood:	n/a	chr7:150924483-150924493
31	CEBPB	chr7:150923868-150924721	MCF-7	breast:	n/a	chr7:150924320-150924328
32	CEBPD	chr7:150923847-150924913	K562	blood:	n/a	n/a
33	E2F6	chr7:150923800-150924620	K562	blood:	n/a	chr7:150924319-150924328
34	MAX	chr7:150923919-150924816	GM12878	blood:	n/a	chr7:150924483-150924493
35	RUNX3	chr7:150923893-150924766	GM12878	blood:	n/a	n/a
36	POLR2A	chr7:150923636-150924859	K562	blood:	n/a	n/a
37	POLR2A	chr7:150923885-150924930	GM18505	blood:	n/a	n/a
38	POLR2A	chr7:150923827-150924767	MCF-7	breast:	n/a	n/a
39	SIN3AK20	chr7:150923895-150924679	PANC-1	pancreas:	n/a	n/a
40	POLR2A	chr7:150923703-150924746	GM12892	blood:	n/a	n/a
41	MAX	chr7:150923802-150924877	SK-N-SH	brain:	n/a	chr7:150924483-150924493
42	POLR2A	chr7:150923931-150924866	MCF-7	breast:	n/a	n/a
43	SIN3AK20	chr7:150923735-150924816	K562	blood:	n/a	n/a
44	CEBPB	chr7:150923821-150924895	HCT-116	colon:	n/a	chr7:150924320-150924328
45	MAX	chr7:150923917-150924638	HepG2	liver:	n/a	chr7:150924483-150924493
46	POLR2A	chr7:150923062-150924742	MCF10A-Er-Src	breast:	n/a	n/a
47	IRF1	chr7:150923909-150924833	K562	blood:	n/a	chr7:150924319-150924328 chr7:150924484-150924498
48	HMGN3	chr7:150923860-150924644	K562	blood:	n/a	n/a
49	CREB1	chr7:150923906-150924883	A549	lung:	n/a	chr7:150924451-150924464
50	POLR2A	chr7:150923875-150924878	GM19193	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150725439..150727092-chr7:150922758..150925738,2	K562	blood:
2	chr7:150755192..150758087-chr7:150922401..150925767,3	K562	blood:
3	chr7:150923377..150925570-chr7:151215684..151217252,2	K562	blood:
4	chr7:150923836..150926071-chr7:150936441..150939158,3	MCF-7	breast:
5	chr7:150922541..150925891-chr7:150969834..150974111,4	K562	blood:
6	chr7:150755190..150756692-chr7:150922882..150924419,2	K562	blood:
7	chr7:150891570..150894014-chr7:150923322..150926505,4	K562	blood:
8	chr7:150923495..150927436-chr7:150940006..150942925,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMARCD3-1	chr7:150923824-150924044	NONHSAT124200

Variant related genes	Relation type
ABCF2	TF binding region
ENSG00000197150	Chromatin interaction
ENSG00000272661	Chromatin interaction
ENSG00000164885	Chromatin interaction
ENSG00000106615	Chromatin interaction
ENSG00000243433	Chromatin interaction
ENSG00000164889	Chromatin interaction
ENSG00000082014	Chromatin interaction
ENSG00000183016	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10236491	1.00[AMR][1000 genomes]
rs10238747	1.00[AMR][1000 genomes]
rs10268063	1.00[AMR][1000 genomes]
rs11972504	1.00[AMR][1000 genomes]
rs11976682	1.00[AMR][1000 genomes]
rs11976868	1.00[AMR][1000 genomes]
rs61453037	1.00[AMR][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	nsv435860	chr7:150923672-150930735	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150922600-150924000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr7:150922800-150924000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:150923000-150924000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr7:150923000-150924000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr7:150923000-150924000	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr7:150923000-150924000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr7:150923000-150924200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:150923000-150924200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:150923000-150924200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr7:150923000-150925200	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr7:150923200-150924000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr7:150923200-150924000	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr7:150923200-150924000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr7:150923200-150924000	Flanking Active TSS	Liver	Liver
15	chr7:150923200-150924000	Flanking Active TSS	Pancreas	Pancrea
16	chr7:150923200-150924000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr7:150923200-150924200	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr7:150923200-150924200	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr7:150923200-150925200	Active TSS	H9 Cell Line	embryonic stem cell
20	chr7:150923200-150925200	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr7:150923200-150925200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:150923400-150924000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr7:150923400-150924000	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr7:150923400-150924000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr7:150923400-150924000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:150923400-150924000	Flanking Active TSS	Dnd41	blood
27	chr7:150923400-150924800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:150923400-150925000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:150923400-150925000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:150923400-150925000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:150923400-150925000	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr7:150923400-150925000	Active TSS	Aorta	Aorta
33	chr7:150923400-150925000	Active TSS	Fetal Kidney	kidney
34	chr7:150923400-150925200	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr7:150923400-150925200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr7:150923400-150925200	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr7:150923400-150925200	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr7:150923400-150925200	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr7:150923400-150925200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:150923400-150925200	Active TSS	A549	lung
41	chr7:150923600-150924000	Flanking Active TSS	Spleen	Spleen
42	chr7:150923600-150924800	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr7:150923600-150924800	Active TSS	Hela-S3	cervix
44	chr7:150923600-150924800	Active TSS	K562	blood
45	chr7:150923600-150925000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr7:150923600-150925000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:150923600-150925000	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr7:150923600-150925000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:150923600-150925000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:150923600-150925000	Active TSS	Muscle Satellite Cultured Cells	--

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