Variant report

Variant	rs7530212
Chromosome Location	chr1:151410084-151410085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr1:151409896-151410224	GM12878	blood:	n/a	n/a
2	EBF1	chr1:151409896-151410152	GM12878	blood:	n/a	n/a
3	PAX5	chr1:151409824-151410318	GM12878	blood:	n/a	n/a
4	PAX5	chr1:151409931-151410137	GM12878	blood:	n/a	n/a
5	PAX5	chr1:151409876-151410228	GM12878	blood:	n/a	n/a
6	RUNX3	chr1:151409864-151410205	GM12878	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	1:151402394-151411623..1:151496437-151509688	K562	blood:
2	1:151402394-151411623..1:151516085-151535167	GM12878	blood:
3	1:151246650-151254384..1:151402394-151411623	GM12878	blood:
4	chr1:151409926..151411809-chr1:151413476..151415968,2	MCF-7	breast:
5	1:151402394-151411623..1:151618750-151636526	GM12878	blood:
6	chr1:151410006..151411683-chr1:151482922..151485531,2	MCF-7	breast:
7	1:151254384-151268403..1:151402394-151411623	GM12878	blood:
8	1:151180715-151199990..1:151402394-151411623	GM12878	blood:
9	1:151203965-151215310..1:151402394-151411623	GM12878	blood:

No data

Variant related genes	Relation type
RNY4P25	TF binding region
ENSG00000143373	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000223861	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000143376	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000252840	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs35198305	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57098736	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59506235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59863461	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61147726	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6702368	1.00[AMR][1000 genomes]
rs72996003	1.00[AMR][1000 genomes]
rs72996015	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72996022	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72996027	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72996035	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72996038	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72996040	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72996059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72996068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72996077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72996084	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72996087	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72996090	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72996094	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
4	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv872424	chr1:151325055-151413180	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv872425	chr1:151325055-151413790	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv2756864	chr1:151328794-151411635	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv2758969	chr1:151328794-151411635	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv872429	chr1:151329138-151413180	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv8380	chr1:151329887-151410346	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv463827	chr1:151333167-151413180	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv547850	chr1:151333167-151413180	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv872430	chr1:151334796-151413180	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
14	nsv872431	chr1:151338570-151413180	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
15	nsv872432	chr1:151339196-151413180	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv872433	chr1:151341417-151413180	Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
17	nsv872434	chr1:151347820-151413180	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
18	nsv872435	chr1:151351060-151413180	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
19	nsv872436	chr1:151357333-151413180	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
20	nsv872437	chr1:151373065-151413180	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
21	nsv872438	chr1:151377407-151413180	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
22	nsv872440	chr1:151396037-151413180	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
23	esv1811070	chr1:151403570-151433317	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr1:151373400-151416400	Weak transcription	Stomach Mucosa	stomach
2	chr1:151393000-151413400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:151398400-151429600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:151398600-151417400	Weak transcription	Fetal Heart	heart
5	chr1:151400800-151417400	Weak transcription	Aorta	Aorta
6	chr1:151401000-151412200	Weak transcription	Brain Germinal Matrix	brain
7	chr1:151401000-151416200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:151401000-151430000	Weak transcription	Esophagus	oesophagus
9	chr1:151401400-151413000	Weak transcription	K562	blood
10	chr1:151401400-151413200	Weak transcription	Small Intestine	intestine
11	chr1:151401400-151417400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:151401600-151411400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:151401600-151429200	Weak transcription	Spleen	Spleen
14	chr1:151402200-151413200	Weak transcription	Fetal Brain Male	brain
15	chr1:151402200-151416200	Weak transcription	Colonic Mucosa	Colon
16	chr1:151403200-151410800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:151403200-151411000	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:151403200-151411000	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:151403200-151411200	Weak transcription	Fetal Brain Female	brain
20	chr1:151403200-151411400	Weak transcription	Primary T cells from cord blood	blood
21	chr1:151403200-151411400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:151403200-151411800	Weak transcription	HSMM	muscle
23	chr1:151403200-151412000	Weak transcription	Primary B cells from cord blood	blood
24	chr1:151403200-151412800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:151403200-151413000	Weak transcription	Brain Substantia Nigra	brain
26	chr1:151403200-151413200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:151403200-151413200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:151403200-151413200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:151403200-151413400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:151403200-151413400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:151403200-151413400	Weak transcription	Fetal Kidney	kidney
32	chr1:151403200-151413800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr1:151403200-151416800	Weak transcription	HSMMtube	muscle
34	chr1:151403400-151410800	Weak transcription	HepG2	liver
35	chr1:151403400-151411000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:151403400-151411000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:151403400-151411000	Weak transcription	Ovary	ovary
38	chr1:151403400-151411200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr1:151403400-151411200	Weak transcription	NHEK	skin
40	chr1:151403400-151413200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:151403400-151413200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:151403400-151413200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:151403400-151413200	Weak transcription	HUVEC	blood vessel
44	chr1:151403400-151413400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr1:151403400-151413400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr1:151403400-151413400	Weak transcription	Pancreas	Pancrea
47	chr1:151403400-151416200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr1:151403600-151411200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr1:151403600-151413200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:151403800-151411200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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