Variant report

Variant	rs72871223
Chromosome Location	chr1:9793845-9793846
allele	A/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	POLR2A	chr1:9793728-9793966	GM12891	blood:	n/a	n/a
2	POLR2A	chr1:9788179-9794880	GM12891	blood:	n/a	n/a
3	POLR2A	chr1:9793224-9794187	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:9792156-9794365	GM12892	blood:	n/a	n/a
5	POLR2A	chr1:9793073-9794428	GM12891	blood:	n/a	n/a
6	POLR2A	chr1:9793481-9794044	HL-60	blood:	n/a	n/a
7	POLR2A	chr1:9793128-9794150	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:9793734-9793860	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:9793082-9794301	GM12891	blood:	n/a	n/a
10	POLR2A	chr1:9793656-9793966	K562	blood:	n/a	n/a
11	POU2F2	chr1:9793487-9793982	GM12891	blood:	n/a	n/a
12	POLR2A	chr1:9792334-9794176	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:9793172-9794194	GM12891	blood:	n/a	n/a
14	POU2F2	chr1:9793488-9793864	GM12891	blood:	n/a	n/a
15	POLR2A	chr1:9793157-9794259	HL-60	blood:	n/a	n/a
16	POLR2A	chr1:9793229-9794233	GM18505	blood:	n/a	n/a
17	POLR2A	chr1:9790143-9794380	GM12878	blood:	n/a	n/a
18	POLR2A	chr1:9786575-9794345	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:9793095-9794247	GM12892	blood:	n/a	n/a
20	POLR2A	chr1:9792297-9794329	GM19193	blood:	n/a	n/a
21	POLR2A	chr1:9790077-9794438	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:9790070-9794149	GM12892	blood:	n/a	n/a
23	POLR2A	chr1:9792680-9794151	GM18951	blood:	n/a	n/a
24	POLR2A	chr1:9793331-9793931	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9777325..9778983-chr1:9792755..9795426,2	K562	blood:

Variant related genes	Relation type
CLSTN1	TF binding region
ENSG00000171608	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs4988680	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58978222	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6664451	1.00[AMR][1000 genomes]
rs72855710	1.00[AMR][1000 genomes]
rs72855712	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72855717	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72855750	1.00[AMR][1000 genomes]
rs72871215	1.00[AMR][1000 genomes]
rs72871220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72871231	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS 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	15 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	chr1:9750600-9813000	Weak transcription	Right Atrium	heart
2	chr1:9781200-9813200	Strong transcription	Stomach Smooth Muscle	stomach
3	chr1:9781600-9800600	Weak transcription	Fetal Brain Male	brain
4	chr1:9783800-9799600	Strong transcription	Fetal Brain Female	brain
5	chr1:9784000-9797200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:9784000-9815400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:9784200-9796800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:9784200-9807400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:9784200-9815800	Strong transcription	Fetal Intestine Small	intestine
10	chr1:9786400-9814000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:9786600-9798000	Strong transcription	Adipose Nuclei	Adipose
12	chr1:9786600-9802200	Strong transcription	Esophagus	oesophagus
13	chr1:9786600-9804800	Strong transcription	Ovary	ovary
14	chr1:9786600-9806000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:9786600-9807000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:9786600-9807000	Strong transcription	HepG2	liver
17	chr1:9786600-9815200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:9786800-9796000	Strong transcription	Placenta Amnion	Placenta Amnion
19	chr1:9786800-9802600	Strong transcription	Osteobl	bone
20	chr1:9786800-9806200	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr1:9786800-9807200	Strong transcription	Placenta	Placenta
22	chr1:9786800-9814000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:9787000-9798000	Strong transcription	Colonic Mucosa	Colon
24	chr1:9787000-9801600	Strong transcription	Gastric	stomach
25	chr1:9787000-9801600	Strong transcription	Right Ventricle	heart
26	chr1:9787000-9805600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:9787000-9807000	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr1:9787000-9813000	Weak transcription	Fetal Heart	heart
29	chr1:9787200-9802400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:9787200-9804800	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:9787200-9806800	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:9787200-9807200	Strong transcription	Fetal Muscle Leg	muscle
33	chr1:9787400-9797200	Strong transcription	Brain Anterior Caudate	brain
34	chr1:9787400-9801800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:9787400-9806400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:9787400-9807000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr1:9787400-9807200	Strong transcription	Left Ventricle	heart
38	chr1:9787400-9807200	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:9787400-9811800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:9787600-9802200	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:9787600-9807400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:9787600-9812000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:9787600-9813200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr1:9787600-9815200	Strong transcription	Duodenum Mucosa	Duodenum
45	chr1:9788000-9802400	Strong transcription	Brain Hippocampus Middle	brain
46	chr1:9788000-9807000	Strong transcription	NHEK	skin
47	chr1:9788200-9797400	Strong transcription	Rectal Smooth Muscle	rectum
48	chr1:9788200-9799600	Strong transcription	Pancreas	Pancrea
49	chr1:9788200-9804800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:9788400-9797400	Strong transcription	Brain Cingulate Gyrus	brain

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