Variant report

Variant	rs72950367
Chromosome Location	chr1:85040789-85040790
allele	A/G
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	chr1:85038502-85041153	GM12892	blood:	n/a	n/a
2	RCOR1	chr1:85039325-85040941	K562	blood:	n/a	n/a
3	MYC	chr1:85039612-85040792	K562	blood:	n/a	n/a
4	IRF1	chr1:85040786-85041090	K562	blood:	n/a	chr1:85040939-85040952 chr1:85040940-85040952 chr1:85040941-85040952 chr1:85040940-85040952 chr1:85040937-85040951 chr1:85040939-85040953 chr1:85040938-85040952 chr1:85040941-85040951
5	MAZ	chr1:85038904-85040904	IMR90	lung:	n/a	n/a
6	POLR2A	chr1:85038645-85041014	GM18505	blood:	n/a	n/a
7	RELA	chr1:85039373-85040857	GM15510	blood:	n/a	n/a
8	POLR2A	chr1:85038609-85040790	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr1:85038702-85040888	Hela-S3	cervix:	n/a	n/a
10	MAZ	chr1:85039602-85041019	K562	blood:	n/a	n/a
11	POLR2A	chr1:85038550-85041038	GM12878	blood:	n/a	n/a
12	IRF1	chr1:85038893-85041084	K562	blood:	n/a	chr1:85040939-85040952 chr1:85040940-85040952 chr1:85040941-85040952 chr1:85040940-85040952 chr1:85040937-85040951 chr1:85040939-85040953 chr1:85040938-85040952 chr1:85040941-85040951
13	POLR2A	chr1:85038738-85040877	GM12892	blood:	n/a	n/a
14	STAT3	chr1:85039504-85040993	MCF10A-Er-Src	breast:	n/a	chr1:85040941-85040952
15	STAT3	chr1:85038745-85040984	MCF10A-Er-Src	breast:	n/a	chr1:85040941-85040952
16	HCFC1	chr1:85039619-85040879	K562	blood:	n/a	n/a
17	NFATC1	chr1:85038563-85040849	GM12878	blood:	n/a	n/a
18	POLR2A	chr1:85038557-85041023	GM12892	blood:	n/a	n/a
19	POLR2A	chr1:85038641-85040917	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:85040746-85040840	K562	blood:	n/a	n/a
21	JUND	chr1:85039238-85041005	K562	blood:	n/a	n/a
22	POLR2A	chr1:85038178-85041032	GM12891	blood:	n/a	n/a
23	POLR2A	chr1:85038567-85041001	GM19193	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:85040466..85042316-chr1:85099444..85102197,2	MCF-7	breast:
2	chr1:84966614..84978118-chr1:85034515..85041986,38	K562	blood:
3	chr1:84966967..84974535-chr1:85036439..85041823,24	K562	blood:
4	chr1:84943703..84948095-chr1:85037647..85043843,8	K562	blood:
5	chr1:85038984..85041113-chr1:85155645..85157338,2	K562	blood:

Variant related genes	Relation type
CTBS	TF binding region
ENSG00000117155	Chromatin interaction
ENSG00000174021	Chromatin interaction
ENSG00000180869	Chromatin interaction
ENSG00000117133	Chromatin interaction
ENSG00000122432	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11800617	1.00[EUR][1000 genomes]
rs11801376	1.00[EUR][1000 genomes]
rs11801784	1.00[EUR][1000 genomes]
rs11802361	1.00[EUR][1000 genomes]
rs11806835	1.00[EUR][1000 genomes]
rs2911574	1.00[EUR][1000 genomes]
rs34769319	1.00[EUR][1000 genomes]
rs57295979	1.00[EUR][1000 genomes]
rs6576716	1.00[EUR][1000 genomes]
rs6688331	1.00[EUR][1000 genomes]
rs72948493	1.00[EUR][1000 genomes]
rs72948498	1.00[EUR][1000 genomes]
rs72950307	1.00[EUR][1000 genomes]
rs72950320	1.00[EUR][1000 genomes]
rs72950348	1.00[EUR][1000 genomes]
rs72950351	1.00[EUR][1000 genomes]
rs72950354	1.00[EUR][1000 genomes]
rs72950365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72950382	1.00[EUR][1000 genomes]
rs72952106	1.00[EUR][1000 genomes]
rs72952111	1.00[EUR][1000 genomes]
rs72952122	1.00[EUR][1000 genomes]
rs72952123	1.00[EUR][1000 genomes]
rs7517918	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85037400-85041200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:85037800-85041200	Active TSS	GM12878-XiMat	blood
3	chr1:85038200-85041000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:85038400-85040800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:85038600-85040800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:85038600-85040800	Active TSS	Psoas Muscle	Psoas
7	chr1:85038600-85040800	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr1:85038600-85041000	Active TSS	Fetal Kidney	kidney
9	chr1:85038800-85041000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:85039000-85040800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:85039000-85040800	Active TSS	HSMMtube	muscle
12	chr1:85039200-85040800	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr1:85039200-85041000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr1:85039200-85041200	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr1:85039400-85040800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:85039400-85040800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:85039400-85040800	Active TSS	Pancreas	Pancrea
18	chr1:85039400-85040800	Active TSS	A549	lung
19	chr1:85039400-85041000	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr1:85039400-85041000	Active TSS	Stomach Smooth Muscle	stomach
21	chr1:85039600-85040800	Active TSS	Placenta Amnion	Placenta Amnion
22	chr1:85039600-85040800	Active TSS	Stomach Mucosa	stomach
23	chr1:85039600-85041000	Active TSS	Brain Anterior Caudate	brain
24	chr1:85039600-85041000	Active TSS	Fetal Brain Female	brain
25	chr1:85039800-85040800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:85039800-85040800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:85039800-85040800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:85039800-85040800	Active TSS	Brain Hippocampus Middle	brain
29	chr1:85039800-85040800	Active TSS	Fetal Lung	lung
30	chr1:85039800-85041000	Active TSS	Thymus	Thymus
31	chr1:85040000-85040800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:85040000-85040800	Active TSS	Primary T cells from cord blood	blood
33	chr1:85040000-85041000	Active TSS	Muscle Satellite Cultured Cells	--
34	chr1:85040000-85049400	Weak transcription	Spleen	Spleen
35	chr1:85040200-85040800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:85040200-85040800	Active TSS	Aorta	Aorta
37	chr1:85040400-85040800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:85040400-85040800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr1:85040400-85040800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
40	chr1:85040400-85040800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
41	chr1:85040400-85040800	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr1:85040400-85040800	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr1:85040400-85040800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr1:85040400-85040800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:85040400-85040800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr1:85040400-85040800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr1:85040400-85040800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr1:85040400-85040800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr1:85040400-85040800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:85040400-85040800	Flanking Active TSS	Adipose Nuclei	Adipose

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