Variant report

Variant	rs6671706
Chromosome Location	chr1:151223604-151223605
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:13)
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	POLR2A	chr1:151222016-151223768	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr1:151221846-151223889	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:151223061-151223663	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr1:151223602-151223707	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:151223593-151223615	MCF-7	breast:	n/a	n/a
6	POLR2A	chr1:151223582-151223704	ProgFib	skin:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151222463..151229121-chr1:151253476..151256667,10	MCF-7	breast:
2	1:151219411-151234038..1:151592347-151603110	K562	blood:
3	1:151171193-151178589..1:151219411-151234038	GM12878	blood:
4	chr1:151223155..151225986-chr20:49346958..49349175,2	MCF-7	breast:
5	chr1:151221893..151224459-chr1:151261973..151264497,2	K562	blood:
6	chr1:151031405..151033810-chr1:151221218..151224243,3	MCF-7	breast:
7	chr1:151222889..151225707-chr1:151225845..151228097,3	MCF-7	breast:
8	chr1:151158000..151162129-chr1:151223268..151225509,3	K562	blood:
9	chr1:151222468..151224543-chr1:151225704..151227751,3	MCF-7	breast:
10	chr1:151221481..151225778-chr1:151225784..151229391,3	K562	blood:
11	chr1:151170978..151173263-chr1:151222128..151223645,2	MCF-7	breast:
12	chr1:151137246..151139131-chr1:151223016..151225906,2	K562	blood:
13	chr1:151206373..151208624-chr1:151223054..151224782,2	K562	blood:

No data

Variant related genes	Relation type
PSMD4	TF binding region
ENSG00000159352	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000206635	Chromatin interaction
ENSG00000124171	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000163155	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000163156	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6661347	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers 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	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	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
5	nsv831559	chr1:151109459-151239921	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	106 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151173200-151227200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:151195200-151227200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:151206800-151226600	Weak transcription	Right Atrium	heart
4	chr1:151211600-151225400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:151211800-151223800	Strong transcription	Fetal Intestine Small	intestine
6	chr1:151212400-151226800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:151213200-151226800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:151216000-151227200	Weak transcription	Fetal Heart	heart
9	chr1:151216400-151226800	Weak transcription	Fetal Brain Male	brain
10	chr1:151216600-151226800	Weak transcription	Brain Angular Gyrus	brain
11	chr1:151219000-151226800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:151220600-151226800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:151220800-151226600	Weak transcription	Psoas Muscle	Psoas
14	chr1:151220800-151226600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:151220800-151226800	Weak transcription	Small Intestine	intestine
16	chr1:151221000-151226800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr1:151221200-151226600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:151221200-151226600	Weak transcription	Colonic Mucosa	Colon
19	chr1:151221200-151226800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr1:151221200-151226800	Weak transcription	Fetal Kidney	kidney
21	chr1:151221400-151226800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:151221600-151226800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:151221600-151226800	Weak transcription	Gastric	stomach
24	chr1:151221600-151226800	Weak transcription	HUVEC	blood vessel
25	chr1:151221800-151226600	Weak transcription	Brain Germinal Matrix	brain
26	chr1:151221800-151226600	Weak transcription	Right Ventricle	heart
27	chr1:151221800-151226600	Weak transcription	Hela-S3	cervix
28	chr1:151221800-151226800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:151221800-151226800	Weak transcription	Pancreas	Pancrea
30	chr1:151222200-151226800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:151222200-151226800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:151222200-151226800	Weak transcription	Lung	lung
33	chr1:151222200-151226800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:151222400-151226400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:151222400-151226400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:151222400-151226600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr1:151222400-151226600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr1:151222400-151226600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr1:151222400-151226600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:151222400-151226600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:151222400-151226600	Weak transcription	Brain Anterior Caudate	brain
42	chr1:151222400-151226600	Weak transcription	Fetal Brain Female	brain
43	chr1:151222400-151226600	Weak transcription	Fetal Intestine Large	intestine
44	chr1:151222400-151226600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr1:151222400-151226800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:151222400-151226800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:151222400-151226800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:151222400-151226800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:151222400-151226800	Weak transcription	Aorta	Aorta
50	chr1:151222400-151226800	Weak transcription	Duodenum Mucosa	Duodenum

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