Variant report

Variant	rs187238922
Chromosome Location	chr1:227304309-227304310
allele	C/T
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	STAT3	chr1:227303956-227304358	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
CDC42BPA	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1011654	chr1:227196502-227308416	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv832792	chr1:227211378-227364992	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv873239	chr1:227222125-227361072	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv468227	chr1:227223736-227340790	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv549269	chr1:227223736-227340790	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv873240	chr1:227228946-227361072	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv873241	chr1:227242247-227361072	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv549270	chr1:227290139-227361072	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv2830098	chr1:227295716-227422234	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv3416675	chr1:227304121-227304352	Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227214800-227329200	Weak transcription	Right Ventricle	heart
2	chr1:227257800-227312200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:227259400-227349000	Weak transcription	Colonic Mucosa	Colon
4	chr1:227272800-227331000	Weak transcription	Lung	lung
5	chr1:227273000-227312400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:227282600-227318000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:227285600-227308600	Weak transcription	Pancreas	Pancrea
8	chr1:227285600-227313800	Weak transcription	Gastric	stomach
9	chr1:227286400-227328200	Weak transcription	Brain Germinal Matrix	brain
10	chr1:227287400-227360800	Weak transcription	Psoas Muscle	Psoas
11	chr1:227288000-227326400	Weak transcription	A549	lung
12	chr1:227288200-227332400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:227288400-227343000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:227288400-227398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:227288600-227310800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:227288600-227312200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:227288600-227313000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:227288600-227316000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:227288600-227328200	Weak transcription	Fetal Stomach	stomach
20	chr1:227288600-227332400	Weak transcription	NHLF	lung
21	chr1:227288600-227333600	Weak transcription	Esophagus	oesophagus
22	chr1:227288800-227317200	Weak transcription	NHEK	skin
23	chr1:227288800-227330000	Weak transcription	NHDF-Ad	bronchial
24	chr1:227289000-227312000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:227290200-227309800	Weak transcription	Fetal Intestine Small	intestine
26	chr1:227295200-227316000	Weak transcription	Fetal Kidney	kidney
27	chr1:227295200-227346400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:227295400-227310800	Weak transcription	Brain Angular Gyrus	brain
29	chr1:227295400-227313800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:227296000-227310600	Weak transcription	Small Intestine	intestine
31	chr1:227296400-227326200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:227296600-227316400	Weak transcription	HSMMtube	muscle
33	chr1:227296600-227326200	Weak transcription	Fetal Lung	lung
34	chr1:227298600-227351800	Weak transcription	Hela-S3	cervix
35	chr1:227299200-227318800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:227299800-227304600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:227299800-227306600	Weak transcription	HUVEC	blood vessel
38	chr1:227299800-227313800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:227299800-227319600	Weak transcription	Fetal Intestine Large	intestine
40	chr1:227299800-227332600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:227300000-227310800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:227300000-227310800	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:227300000-227311800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:227300000-227312000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:227300000-227312600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:227300000-227315800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:227300000-227316200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr1:227300000-227316400	Weak transcription	Osteobl	bone
49	chr1:227300000-227321800	Weak transcription	Colon Smooth Muscle	Colon
50	chr1:227300000-227325800	Weak transcription	Rectal Mucosa Donor 29	rectum

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