Variant report

Variant	rs61752307
Chromosome Location	chr1:150131481-150131482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:62)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:62 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr1:150131326-150131738	SK-N-SH	brain:	n/a	n/a
2	MAX	chr1:150131189-150131776	SK-N-SH	brain:	n/a	n/a
3	STAT5A	chr1:150131372-150132457	GM12878	blood:	n/a	n/a
4	PBX3	chr1:150131215-150131694	SK-N-SH	brain:	n/a	n/a
5	PML	chr1:150131313-150136105	GM12878	blood:	n/a	n/a
6	TCF12	chr1:150130881-150131981	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr1:150131028-150131850	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr1:150131071-150134891	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr1:150131394-150136206	GM18951	blood:	n/a	n/a
10	RXRA	chr1:150130993-150131794	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr1:150128868-150136928	GM12892	blood:	n/a	n/a
12	EP300	chr1:150130926-150131927	SK-N-SH	brain:	n/a	n/a
13	REST	chr1:150131266-150131660	SK-N-SH	brain:	n/a	n/a
14	RAD21	chr1:150131258-150131696	SK-N-SH_RA	brain:	n/a	n/a
15	POLR2A	chr1:150128882-150136742	GM12892	blood:	n/a	n/a
16	POLR2A	chr1:150128826-150138689	GM12892	blood:	n/a	n/a
17	POLR2A	chr1:150131473-150136005	GM12878	blood:	n/a	n/a
18	EP300	chr1:150131194-150131688	SK-N-SH_RA	brain:	n/a	n/a
19	POLR2A	chr1:150130978-150136076	GM19193	blood:	n/a	n/a
20	NFIC	chr1:150130857-150131709	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr1:150131051-150136311	GM12892	blood:	n/a	n/a
22	GATA2	chr1:150131143-150131933	HUVEC	blood vessel:	n/a	n/a
23	PBX3	chr1:150130984-150131888	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr1:150130840-150136064	SK-N-MC	brain:	n/a	n/a
25	NFIC	chr1:150130892-150131873	SK-N-SH	brain:	n/a	n/a
26	MYC	chr1:150131417-150131655	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr1:150131432-150132474	GM12891	blood:	n/a	n/a
28	ATF2	chr1:150131374-150132425	GM12878	blood:	n/a	n/a
29	POLR2A	chr1:150130914-150132640	GM12878	blood:	n/a	n/a
30	JUND	chr1:150131104-150131883	SK-N-SH	brain:	n/a	n/a
31	JUND	chr1:150131192-150131881	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr1:150129916-150136595	GM12891	blood:	n/a	n/a
33	POLR2A	chr1:150130837-150136642	GM12891	blood:	n/a	n/a
34	POLR2A	chr1:150131468-150136844	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:150122674-150136351	U87	brain:	n/a	n/a
36	POLR2A	chr1:150131213-150131799	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr1:150129022-150136498	GM12891	blood:	n/a	n/a
38	POLR2A	chr1:150131219-150131991	U87	brain:	n/a	n/a
39	POLR2A	chr1:150130848-150133744	GM12878	blood:	n/a	n/a
40	POLR2A	chr1:150130801-150136587	GM12878	blood:	n/a	n/a
41	POLR2A	chr1:150131443-150136587	GM12891	blood:	n/a	n/a
42	POLR2A	chr1:150131169-150132297	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr1:150130868-150132159	HUVEC	blood vessel:	n/a	n/a
44	GATA3	chr1:150130921-150131823	SK-N-SH	brain:	n/a	n/a
45	GATA3	chr1:150130950-150131908	SK-N-SH	brain:	n/a	n/a
46	FOSL2	chr1:150131205-150131785	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr1:150131152-150131736	HUVEC	blood vessel:	n/a	n/a
48	EP300	chr1:150131207-150131690	SK-N-SH_RA	brain:	n/a	n/a
49	TEAD4	chr1:150130829-150131876	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr1:150128878-150136929	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150131401..150134100-chr2:110369407..110372211,2	MCF-7	breast:
2	chr1:150035483..150047454-chr1:150129931..150138567,28	MCF-7	breast:

No data

Variant related genes	Relation type
PLEKHO1	TF binding region
ENSG00000136631	Chromatin interaction
ENSG00000186522	Chromatin interaction
ENSG00000198142	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73005621	1.00[EUR][1000 genomes]
rs73011280	1.00[EUR][1000 genomes]
rs73011283	1.00[EUR][1000 genomes]
rs73011288	1.00[EUR][1000 genomes]
rs73020871	1.00[EUR][1000 genomes]
rs73020873	1.00[EUR][1000 genomes]
rs74124314	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv535152	chr1:150120726-150143089	Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150123200-150135400	Weak transcription	A549	lung
2	chr1:150123400-150134400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:150123400-150134400	Weak transcription	NHEK	skin
4	chr1:150123800-150134200	Weak transcription	HMEC	breast
5	chr1:150123800-150134600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:150124400-150132000	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr1:150124400-150133400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:150124600-150133000	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr1:150124600-150133200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:150124600-150133200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:150124800-150132400	Strong transcription	Fetal Intestine Large	intestine
12	chr1:150124800-150133200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:150125000-150132000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:150125200-150131800	Genic enhancers	Primary B cells from cord blood	blood
15	chr1:150125200-150132400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:150125200-150132800	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:150125200-150132800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:150125200-150133000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:150125200-150133600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:150125400-150131600	Strong transcription	Fetal Intestine Small	intestine
21	chr1:150125400-150133000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:150125400-150133200	Genic enhancers	HSMM	muscle
23	chr1:150125400-150133600	Genic enhancers	NH-A	brain
24	chr1:150125600-150132200	Genic enhancers	HUVEC	blood vessel
25	chr1:150125600-150132400	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr1:150125600-150132400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:150125600-150132800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:150125600-150133200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:150125800-150131800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:150125800-150132000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:150126200-150132000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:150126200-150132400	Strong transcription	Aorta	Aorta
33	chr1:150126200-150132600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:150126400-150132200	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:150126400-150133000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:150126600-150132600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:150126800-150132200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr1:150126800-150132200	Strong transcription	Brain Anterior Caudate	brain
39	chr1:150126800-150132400	Strong transcription	NHDF-Ad	bronchial
40	chr1:150126800-150132800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:150126800-150133400	Weak transcription	Right Atrium	heart
42	chr1:150127200-150131600	Genic enhancers	Rectal Smooth Muscle	rectum
43	chr1:150127200-150132200	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:150127200-150132400	Genic enhancers	Muscle Satellite Cultured Cells	--
45	chr1:150127200-150132800	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:150127400-150132200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:150127400-150132200	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr1:150127400-150132800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:150127400-150132800	Weak transcription	K562	blood
50	chr1:150127400-150133000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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