Variant report

Variant	rs73231958
Chromosome Location	chr3:136644278-136644279
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	MYC	chr3:136644163-136644283	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr3:136644177-136644290	MCF10A-Er-Src	breast:	n/a	n/a
3	EBF1	chr3:136644172-136644984	GM12878	blood:	n/a	chr3:136644499-136644510
4	POLR2A	chr3:136644232-136645051	SK-N-MC	brain:	n/a	n/a
5	SRF	chr3:136644242-136644427	GM12878	blood:	n/a	n/a
6	SRF	chr3:136644262-136644385	GM12878	blood:	n/a	n/a
7	STAT3	chr3:136644203-136644897	GM12878	blood:	n/a	n/a
8	EP300	chr3:136644194-136644965	GM12878	blood:	n/a	n/a
9	CEBPB	chr3:136644117-136644423	Hela-S3	cervix:	n/a	n/a
10	FOS	chr3:136644147-136644347	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:136637702..136640627-chr3:136641838..136645550,3	MCF-7	breast:

Variant related genes	Relation type
NCK1	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1048145	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17301365	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17366890	1.00[ASN][1000 genomes]
rs56308712	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59361983	0.81[EUR][1000 genomes]
rs67546863	0.81[EUR][1000 genomes]
rs67923745	0.81[EUR][1000 genomes]
rs73230077	0.83[EUR][1000 genomes]
rs73230078	0.83[EUR][1000 genomes]
rs73230095	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73231917	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73231937	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73231943	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73231944	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73231953	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73231966	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73231974	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73231975	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877531	chr3:136517016-136662954	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv877532	chr3:136526939-136662603	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv877533	chr3:136539689-136662954	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136613200-136648800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr3:136619200-136656800	Weak transcription	NHLF	lung
3	chr3:136624200-136664400	Weak transcription	Aorta	Aorta
4	chr3:136626000-136646400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:136626000-136661600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:136626400-136646800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:136626400-136647000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:136626400-136648800	Weak transcription	HMEC	breast
9	chr3:136626400-136649200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr3:136626600-136650600	Weak transcription	Esophagus	oesophagus
11	chr3:136626600-136661000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:136628800-136650600	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:136632000-136646800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr3:136632400-136646600	Weak transcription	Fetal Thymus	thymus
15	chr3:136632600-136657000	Weak transcription	HepG2	liver
16	chr3:136633800-136660200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr3:136634000-136648200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:136634800-136650200	Weak transcription	HSMM	muscle
19	chr3:136634800-136656800	Weak transcription	NH-A	brain
20	chr3:136635000-136656600	Weak transcription	K562	blood
21	chr3:136635400-136646800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:136636400-136647000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr3:136636600-136648800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr3:136636800-136646400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:136636800-136649400	Weak transcription	Right Ventricle	heart
26	chr3:136637600-136652000	Weak transcription	Brain Substantia Nigra	brain
27	chr3:136637600-136661400	Weak transcription	Left Ventricle	heart
28	chr3:136638000-136646400	Weak transcription	Thymus	Thymus
29	chr3:136638000-136648400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:136638600-136646800	Weak transcription	Hela-S3	cervix
31	chr3:136638800-136648800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr3:136638800-136648800	Weak transcription	NHEK	skin
33	chr3:136638800-136664400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr3:136639000-136647000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr3:136639000-136664400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:136639200-136646800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr3:136639200-136646800	Weak transcription	Osteobl	bone
38	chr3:136639400-136646400	Weak transcription	Primary B cells from cord blood	blood
39	chr3:136640200-136647000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:136640400-136646400	Weak transcription	Dnd41	blood
41	chr3:136640400-136646800	Weak transcription	Primary T cells from cord blood	blood
42	chr3:136640400-136655000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr3:136640600-136644400	Weak transcription	Fetal Lung	lung
44	chr3:136640600-136645000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr3:136640600-136646800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:136640600-136646800	Weak transcription	Fetal Muscle Leg	muscle
47	chr3:136640600-136647800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr3:136640800-136646400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr3:136640800-136647000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:136640800-136650600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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