Variant report

Variant	rs1563636
Chromosome Location	chr7:150906896-150906897
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:150903944-150907362	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr7:150906404-150907069	U87	brain:	n/a	n/a
3	POLR2A	chr7:150906323-150907343	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr7:150906494-150907276	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:150906054-150907466	K562	blood:	n/a	n/a
6	POLR2A	chr7:150906602-150907419	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:150906707-150907065	U87	brain:	n/a	n/a
8	POLR2A	chr7:150906216-150907024	HepG2	liver:	n/a	n/a
9	POLR2A	chr7:150906225-150907377	A549	lung:	n/a	n/a
10	PML	chr7:150906503-150907137	K562	blood:	n/a	n/a
11	POLR2A	chr7:150906844-150907391	GM12891	blood:	n/a	n/a
12	POLR2A	chr7:150906053-150907258	GM12892	blood:	n/a	n/a
13	USF2	chr7:150906728-150907019	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr7:150906474-150907063	U87	brain:	n/a	n/a
15	POLR2A	chr7:150906865-150906986	MCF-7	breast:	n/a	n/a
16	POLR2A	chr7:150906549-150910050	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr7:150903888-150910558	K562	blood:	n/a	n/a
18	POLR2A	chr7:150904601-150907402	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr7:150906035-150907560	K562	blood:	n/a	n/a
20	POLR2A	chr7:150906487-150907376	K562	blood:	n/a	n/a
21	POLR2A	chr7:150906391-150910223	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr7:150906707-150907046	U87	brain:	n/a	n/a
23	POLR2A	chr7:150906731-150907074	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr7:150906612-150907299	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr7:150906602-150906923	HUVEC	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150893356..150896342-chr7:150905267..150908010,3	K562	blood:
2	chr7:150901201..150903051-chr7:150905841..150907689,2	MCF-7	breast:
3	chr7:150904819..150907851-chr7:150927889..150929495,3	MCF-7	breast:
4	chr7:150900947..150904902-chr7:150906819..150911270,6	MCF-7	breast:
5	chr7:150905577..150911406-chr7:150912646..150916801,5	MCF-7	breast:

No data

Variant related genes	Relation type
IQCA1P1	TF binding region
ENSG00000183016	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1065071	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12113924	0.81[ASN][1000 genomes]
rs12531871	0.81[ASN][1000 genomes]
rs12532489	0.81[ASN][1000 genomes]
rs12536244	0.81[ASN][1000 genomes]
rs12538823	1.00[ASN][1000 genomes]
rs13227935	0.81[ASN][1000 genomes]
rs13239059	0.81[ASN][1000 genomes]
rs13239247	0.81[ASN][1000 genomes]
rs34129956	1.00[ASN][1000 genomes]
rs34163999	0.81[ASN][1000 genomes]
rs34770061	1.00[ASN][1000 genomes]
rs34821030	1.00[ASN][1000 genomes]
rs35041510	0.81[ASN][1000 genomes]
rs35093688	1.00[ASN][1000 genomes]
rs35292078	0.81[ASN][1000 genomes]
rs35302282	1.00[ASN][1000 genomes]
rs35833042	1.00[ASN][1000 genomes]
rs3748098	0.81[ASN][1000 genomes]
rs3800794	0.81[ASN][1000 genomes]
rs55968735	0.81[ASN][1000 genomes]
rs66608097	1.00[ASN][1000 genomes]
rs67128841	0.81[ASN][1000 genomes]
rs6967282	0.93[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7784344	0.81[ASN][1000 genomes]
rs7786151	1.00[ASN][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	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
4	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
5	nsv971515	chr7:150905324-150908880	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150885000-150910000	Weak transcription	Right Atrium	heart
2	chr7:150899000-150909600	Weak transcription	Aorta	Aorta
3	chr7:150901800-150910000	Weak transcription	Ovary	ovary
4	chr7:150902000-150910200	Weak transcription	Right Ventricle	heart
5	chr7:150902000-150910400	Weak transcription	Pancreas	Pancrea
6	chr7:150902400-150907000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:150903000-150908800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:150903200-150909600	Weak transcription	Spleen	Spleen
9	chr7:150904000-150909000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:150904200-150908000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:150904400-150909600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:150904600-150909600	Weak transcription	Psoas Muscle	Psoas
13	chr7:150904600-150909600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:150904800-150907600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr7:150904800-150908600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:150904800-150908800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:150904800-150909200	Weak transcription	GM12878-XiMat	blood
18	chr7:150904800-150909400	Weak transcription	Fetal Thymus	thymus
19	chr7:150905000-150908200	Weak transcription	Primary T cells from cord blood	blood
20	chr7:150905000-150908400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:150905000-150910000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:150905000-150910000	Weak transcription	Esophagus	oesophagus
23	chr7:150905000-150910800	Weak transcription	Colonic Mucosa	Colon
24	chr7:150905200-150908000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:150905200-150908600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr7:150905200-150909200	Weak transcription	K562	blood
27	chr7:150905200-150909600	Weak transcription	Gastric	stomach
28	chr7:150905200-150910000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr7:150905200-150910200	Weak transcription	A549	lung
30	chr7:150905400-150908800	Weak transcription	Fetal Intestine Small	intestine
31	chr7:150905400-150909000	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:150905400-150909400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr7:150905400-150909600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr7:150905400-150912000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr7:150905400-150912000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr7:150905600-150909200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:150905600-150910000	Weak transcription	Brain Germinal Matrix	brain
38	chr7:150905600-150910000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr7:150905600-150911600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr7:150905800-150908800	Weak transcription	Primary B cells from cord blood	blood
41	chr7:150905800-150908800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr7:150905800-150909000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:150905800-150909200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr7:150905800-150909200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr7:150905800-150909800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:150905800-150909800	Weak transcription	HMEC	breast
47	chr7:150905800-150910200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr7:150905800-150910200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:150905800-150910200	Weak transcription	HepG2	liver
50	chr7:150905800-150910800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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