Variant report

Variant	rs41271951
Chromosome Location	chr1:150737220-150737221
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	chr1:150737139-150737259	HUVEC	blood vessel:	n/a	n/a
2	CEBPB	chr1:150737110-150737710	IMR90	lung:	n/a	n/a
3	RELA	chr1:150737150-150737731	GM12878	blood:	n/a	chr1:150737519-150737528 chr1:150737519-150737528
4	USF2	chr1:150737134-150737441	Hela-S3	cervix:	n/a	n/a
5	RPC155	chr1:150736847-150737412	Hela-S3	cervix:	n/a	n/a
6	MAX	chr1:150737126-150737439	NB4	blood:	n/a	chr1:150737292-150737302
7	POLR2A	chr1:150736920-150737368	GM12878	blood:	n/a	n/a
8	FOSL2	chr1:150736985-150737578	A549	lung:	n/a	n/a
9	TCF7L2	chr1:150737138-150737683	Hela-S3	cervix:	n/a	chr1:150737333-150737342
10	CEBPB	chr1:150737058-150737704	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr1:150737022-150737366	Hela-S3	cervix:	n/a	n/a
12	RUNX3	chr1:150737037-150737432	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:150736976-150737306	Hela-S3	cervix:	n/a	n/a
14	BATF	chr1:150737069-150737330	GM12878	blood:	n/a	n/a
15	MYC	chr1:150737152-150737710	MCF10A-Er-Src	breast:	n/a	chr1:150737292-150737302
16	MAX	chr1:150737182-150737413	A549	lung:	n/a	chr1:150737292-150737302
17	STAT3	chr1:150737183-150737709	MCF10A-Er-Src	breast:	n/a	chr1:150737461-150737472 chr1:150737463-150737472 chr1:150737460-150737474 chr1:150737373-150737381 chr1:150737466-150737474 chr1:150737457-150737477 chr1:150737462-150737471
18	CEBPB	chr1:150737194-150737676	A549	lung:	n/a	n/a
19	ARID3A	chr1:150737188-150737580	HepG2	liver:	n/a	n/a
20	GTF3C2	chr1:150736509-150737441	Hela-S3	cervix:	n/a	n/a
21	TCF7L2	chr1:150737142-150737612	Hela-S3	cervix:	n/a	chr1:150737333-150737342
22	FOS	chr1:150737108-150737681	MCF10A-Er-Src	breast:	n/a	n/a
23	GATA3	chr1:150737047-150737914	A549	lung:	n/a	chr1:150737511-150737522
24	STAT3	chr1:150737183-150737656	MCF10A-Er-Src	breast:	n/a	chr1:150737461-150737472 chr1:150737463-150737472 chr1:150737460-150737474 chr1:150737373-150737381 chr1:150737466-150737474 chr1:150737457-150737477 chr1:150737462-150737471
25	TCF12	chr1:150737009-150738439	SK-N-SH	brain:	n/a	n/a
26	RELA	chr1:150737074-150737656	GM19099	blood:	n/a	chr1:150737519-150737528 chr1:150737519-150737528
27	POLR2A	chr1:150737047-150737389	Hela-S3	cervix:	n/a	n/a
28	MXI1	chr1:150737096-150737478	GM12878	blood:	n/a	n/a
29	IKZF1	chr1:150737076-150738508	GM12878	blood:	n/a	n/a
30	TCF12	chr1:150736966-150737771	A549	lung:	n/a	n/a
31	POLR2A	chr1:150737031-150737607	HUVEC	blood vessel:	n/a	n/a
32	FOS	chr1:150737092-150737554	HUVEC	blood vessel:	n/a	n/a
33	SP1	chr1:150736974-150737683	A549	lung:	n/a	n/a
34	WRNIP1	chr1:150737047-150737247	GM12878	blood:	n/a	n/a
35	JUN	chr1:150737140-150737583	HUVEC	blood vessel:	n/a	n/a
36	RUNX3	chr1:150736967-150737559	GM12878	blood:	n/a	n/a
37	STAT1	chr1:150737028-150737854	Hela-S3	cervix:	n/a	chr1:150737463-150737472 chr1:150737460-150737474 chr1:150737373-150737381 chr1:150737466-150737474 chr1:150737457-150737477 chr1:150737462-150737471
38	CEBPB	chr1:150736963-150737857	A549	lung:	n/a	n/a
39	MYC	chr1:150737155-150737590	NB4	blood:	n/a	chr1:150737292-150737302
40	MYC	chr1:150737197-150737225	Hela-S3	cervix:	n/a	n/a
41	RCOR1	chr1:150736961-150737772	IMR90	lung:	n/a	n/a
42	FOS	chr1:150737152-150737681	MCF10A-Er-Src	breast:	n/a	n/a
43	MYC	chr1:150737123-150737509	MCF10A-Er-Src	breast:	n/a	chr1:150737292-150737302
44	FOS	chr1:150737211-150737603	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150550688..150552369-chr1:150735871..150738707,2	MCF-7	breast:

Variant related genes	Relation type
CTSS	TF binding region
ENSG00000143384	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10305699	1.00[AFR][1000 genomes]
rs10305724	1.00[AFR][1000 genomes]
rs12063995	1.00[AFR][1000 genomes]
rs12089671	1.00[AFR][1000 genomes]
rs12094394	1.00[AFR][1000 genomes]
rs56057831	1.00[AFR][1000 genomes]
rs72700829	1.00[AFR][1000 genomes]
rs72700881	1.00[AFR][1000 genomes]
rs72702561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv872417	chr1:150618632-150759979	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv872419	chr1:150699199-150738759	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv1008381	chr1:150721254-150745558	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150712000-150737800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr1:150720600-150737800	Weak transcription	Brain Substantia Nigra	brain
3	chr1:150723000-150738000	Weak transcription	Right Ventricle	heart
4	chr1:150724400-150737800	Weak transcription	Aorta	Aorta
5	chr1:150729200-150737600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:150730800-150738000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:150732400-150737400	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
8	chr1:150734600-150737600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr1:150734800-150738400	Active TSS	GM12878-XiMat	blood
10	chr1:150735600-150738600	Active TSS	Rectal Smooth Muscle	rectum
11	chr1:150735800-150737800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:150736200-150737400	Enhancers	Fetal Thymus	thymus
13	chr1:150736200-150737400	Enhancers	Lung	lung
14	chr1:150736200-150737800	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr1:150736200-150737800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr1:150736200-150737800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:150736200-150738400	Active TSS	Brain Anterior Caudate	brain
18	chr1:150736200-150738600	Active TSS	Colonic Mucosa	Colon
19	chr1:150736400-150737400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:150736400-150737400	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr1:150736400-150737400	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr1:150736400-150738200	Active TSS	Brain Hippocampus Middle	brain
23	chr1:150736400-150738200	Enhancers	NH-A	brain
24	chr1:150736400-150738600	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr1:150736600-150737400	Weak transcription	Placenta	Placenta
26	chr1:150736600-150737600	Enhancers	Fetal Kidney	kidney
27	chr1:150736600-150737600	Enhancers	Fetal Stomach	stomach
28	chr1:150736600-150738400	Active TSS	Duodenum Mucosa	Duodenum
29	chr1:150736600-150738400	Active TSS	Right Atrium	heart
30	chr1:150736800-150737400	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr1:150736800-150737800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr1:150737000-150737400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr1:150737000-150737400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr1:150737000-150737400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr1:150737000-150737400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:150737000-150737400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:150737000-150737400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:150737000-150737400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr1:150737000-150737400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:150737000-150737400	Flanking Active TSS	Liver	Liver
41	chr1:150737000-150737400	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr1:150737000-150737400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr1:150737000-150737400	Flanking Active TSS	Hela-S3	cervix
44	chr1:150737000-150737400	Flanking Active TSS	K562	blood
45	chr1:150737000-150737400	Enhancers	Osteobl	bone
46	chr1:150737000-150737600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr1:150737000-150737600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr1:150737000-150737600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:150737000-150737600	Enhancers	Fetal Intestine Small	intestine
50	chr1:150737000-150737600	Flanking Active TSS	NHDF-Ad	bronchial

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