Variant report

Variant	rs2300896
Chromosome Location	chr2:37457690-37457691
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	MXI1	chr2:37456226-37460228	SK-N-SH	brain:	n/a	n/a
2	GATA2	chr2:37457660-37459567	SH-SY5Y	brain:	n/a	n/a
3	POLR2A	chr2:37457683-37458014	K562	blood:	n/a	n/a
4	MAX	chr2:37457632-37459963	HepG2	liver:	n/a	chr2:37459879-37459890 chr2:37459880-37459890
5	MYC	chr2:37457449-37459281	K562	blood:	n/a	chr2:37457590-37457603 chr2:37457593-37457602 chr2:37457590-37457605 chr2:37457592-37457602 chr2:37457591-37457602 chr2:37457592-37457601 chr2:37457594-37457601
6	TAF7	chr2:37457672-37459064	H1-hESC	embryonic stem cell:	n/a	n/a
7	MYC	chr2:37457567-37459456	K562	blood:	n/a	chr2:37457590-37457603 chr2:37457593-37457602 chr2:37457590-37457605 chr2:37457592-37457602 chr2:37457591-37457602 chr2:37457592-37457601 chr2:37457594-37457601
8	MXI1	chr2:37457543-37457778	K562	blood:	n/a	n/a
9	MXI1	chr2:37457475-37460225	IMR90	lung:	n/a	n/a
10	MYC	chr2:37457503-37459260	MCF10A-Er-Src	breast:	n/a	chr2:37457590-37457603 chr2:37457593-37457602 chr2:37457590-37457605 chr2:37457592-37457602 chr2:37457591-37457602 chr2:37457592-37457601 chr2:37457594-37457601
11	MAX	chr2:37457492-37459203	SK-N-SH	brain:	n/a	chr2:37457590-37457603 chr2:37457593-37457602 chr2:37457590-37457605 chr2:37457592-37457602 chr2:37457591-37457602 chr2:37457592-37457601 chr2:37457594-37457601
12	MAX	chr2:37457627-37459928	Hela-S3	cervix:	n/a	chr2:37459879-37459890 chr2:37459880-37459890
13	NR2F2	chr2:37457618-37459556	K562	blood:	n/a	n/a
14	HCFC1	chr2:37457687-37459743	Hela-S3	cervix:	n/a	n/a
15	E2F4	chr2:37457605-37457730	MCF10A-Er-Src	breast:	n/a	chr2:37457621-37457630
16	MXI1	chr2:37457507-37459459	Hela-S3	cervix:	n/a	n/a
17	MAX	chr2:37457466-37459279	NB4	blood:	n/a	chr2:37457590-37457603 chr2:37457593-37457602 chr2:37457590-37457605 chr2:37457592-37457602 chr2:37457591-37457602 chr2:37457592-37457601 chr2:37457594-37457601
18	MYC	chr2:37457639-37459957	K562	blood:	n/a	chr2:37459879-37459890 chr2:37459880-37459890
19	GATA3	chr2:37457577-37457975	SH-SY5Y	brain:	n/a	n/a
20	MXI1	chr2:37457506-37459311	GM12878	blood:	n/a	n/a
21	TBP	chr2:37457661-37459017	Hela-S3	cervix:	n/a	n/a
22	MYC	chr2:37457412-37458913	MCF10A-Er-Src	breast:	n/a	chr2:37457590-37457603 chr2:37457593-37457602 chr2:37457590-37457605 chr2:37457592-37457602 chr2:37457591-37457602 chr2:37457592-37457601 chr2:37457594-37457601
23	MAX	chr2:37457419-37459639	A549	lung:	n/a	chr2:37457590-37457603 chr2:37457593-37457602 chr2:37457590-37457605 chr2:37457592-37457602 chr2:37457591-37457602 chr2:37457592-37457601 chr2:37457594-37457601
24	POLR2A	chr2:37457686-37459421	GM12878	blood:	n/a	n/a
25	POLR2A	chr2:37457624-37457819	MCF10A-Er-Src	breast:	n/a	n/a
26	TBP	chr2:37457590-37457950	HepG2	liver:	n/a	n/a
27	MAX	chr2:37457616-37459614	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:37423198..37425602-chr2:37457469..37460195,6	K562	blood:
2	chr2:37457149..37460328-chr2:37469330..37472927,4	MCF-7	breast:
3	chr2:37457130..37459625-chr2:38301766..38304160,2	MCF-7	breast:
4	chr2:37438602..37441837-chr2:37456700..37460160,3	K562	blood:
5	chr2:37420975..37425403-chr2:37457376..37460314,8	K562	blood:
6	chr2:37422039..37425278-chr2:37456815..37459935,9	MCF-7	breast:
7	chr2:37383967..37386325-chr2:37457482..37459560,2	MCF-7	breast:
8	chr2:37457647..37458147-chr4:570703..571253,2	Hela-S3	cervix:
9	chr2:37422594..37426591-chr2:37455893..37460210,5	MCF-7	breast:
10	chr2:37413518..37417531-chr2:37457528..37460316,5	MCF-7	breast:
11	chr2:37456368..37460350-chr2:37466636..37472512,8	MCF-7	breast:

Variant related genes	Relation type
NDUFAF7	TF binding region
ENSG00000232973	Chromatin interaction
ENSG00000233159	Chromatin interaction
ENSG00000003509	Chromatin interaction
ENSG00000138068	Chromatin interaction
ENSG00000055332	Chromatin interaction
ENSG00000218739	Chromatin interaction
ENSG00000138061	Chromatin interaction
ENSG00000115816	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10206380	0.86[ASN][1000 genomes]
rs12469082	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12476195	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13429526	0.87[ASN][1000 genomes]
rs17020344	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17020358	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2041838	0.86[ASN][1000 genomes]
rs2041839	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2075215	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2075216	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2241163	0.86[EUR][1000 genomes]
rs2268988	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2300891	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2372887	0.97[ASN][1000 genomes]
rs3213746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57861177	0.90[EUR][1000 genomes]
rs59559471	0.89[ASN][1000 genomes]
rs59612622	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60981509	0.86[EUR][1000 genomes]
rs73927424	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs952711	0.86[EUR][1000 genomes]
rs952712	0.86[EUR][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37448400-37457800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:37455800-37457800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:37455800-37457800	Weak transcription	Esophagus	oesophagus
4	chr2:37455800-37457800	Weak transcription	Lung	lung
5	chr2:37456200-37459600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr2:37456400-37457800	Flanking Active TSS	NHEK	skin
7	chr2:37456400-37458000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:37456600-37457800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:37456600-37457800	Enhancers	Primary B cells from peripheral blood	blood
10	chr2:37456600-37457800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:37456600-37457800	Enhancers	Brain Substantia Nigra	brain
12	chr2:37456600-37457800	Enhancers	Gastric	stomach
13	chr2:37456600-37458000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:37456600-37458000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr2:37456600-37458000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr2:37456600-37458000	Flanking Active TSS	HUVEC	blood vessel
17	chr2:37456600-37458200	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr2:37456600-37458400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:37456600-37460400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:37456800-37457800	Enhancers	Placenta	Placenta
21	chr2:37456800-37458000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:37456800-37458000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:37456800-37458000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:37456800-37458000	Flanking Active TSS	Fetal Brain Female	brain
25	chr2:37456800-37458000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr2:37456800-37458000	Flanking Active TSS	Dnd41	blood
27	chr2:37456800-37458200	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr2:37456800-37458400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:37456800-37458400	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr2:37456800-37459400	Active TSS	GM12878-XiMat	blood
31	chr2:37456800-37460600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:37457000-37457800	Weak transcription	Pancreas	Pancrea
33	chr2:37457000-37457800	Weak transcription	Spleen	Spleen
34	chr2:37457000-37458200	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr2:37457000-37458200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:37457000-37459000	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr2:37457000-37459400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:37457000-37459400	Active TSS	Right Ventricle	heart
39	chr2:37457000-37459600	Active TSS	H1 Cell Line	embryonic stem cell
40	chr2:37457000-37459600	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr2:37457000-37459600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:37457000-37459800	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr2:37457000-37459800	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr2:37457000-37460200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:37457000-37461000	Active TSS	H9 Cell Line	embryonic stem cell
46	chr2:37457200-37457800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:37457200-37458000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:37457200-37458000	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr2:37457200-37458000	Flanking Active TSS	Fetal Brain Male	brain
50	chr2:37457200-37458000	Flanking Active TSS	Rectal Smooth Muscle	rectum

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