Variant report

Variant	rs949922
Chromosome Location	chr2:86669802-86669803
allele	C/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	chr2:86669133-86670059	PBDE	blood:	n/a	n/a
2	HEY1	chr2:86668280-86670303	K562	blood:	n/a	chr2:86668618-86668633 chr2:86668345-86668360 chr2:86668945-86668960 chr2:86668629-86668644
3	ELK1	chr2:86669541-86670154	K562	blood:	n/a	n/a
4	POLR2A	chr2:86667655-86669884	GM19099	blood:	n/a	n/a
5	TCF12	chr2:86669004-86669869	A549	lung:	n/a	n/a
6	POLR2A	chr2:86669060-86670265	U87	brain:	n/a	n/a
7	TBP	chr2:86669711-86670090	K562	blood:	n/a	n/a
8	TCF7L2	chr2:86669155-86670088	HCT-116	colon:	n/a	n/a
9	TBP	chr2:86669246-86670077	HepG2	liver:	n/a	n/a
10	EGR1	chr2:86669769-86670072	K562	blood:	n/a	chr2:86669925-86669940
11	STAT3	chr2:86669656-86670059	MCF10A-Er-Src	breast:	n/a	n/a
12	ZMIZ1	chr2:86669680-86670000	K562	blood:	n/a	n/a
13	POLR2A	chr2:86669467-86670915	HepG2	liver:	n/a	n/a
14	MAZ	chr2:86669061-86670156	GM12878	blood:	n/a	chr2:86669091-86669101
15	HEY1	chr2:86669601-86670093	HepG2	liver:	n/a	n/a
16	MAZ	chr2:86667693-86670026	K562	blood:	n/a	chr2:86669091-86669101 chr2:86667843-86667850 chr2:86668345-86668355 chr2:86667840-86667855 chr2:86668553-86668563 chr2:86667838-86667853 chr2:86667842-86667852 chr2:86667842-86667851
17	ELF1	chr2:86669788-86670043	K562	blood:	n/a	n/a
18	ATF1	chr2:86669750-86670091	K562	blood:	n/a	n/a
19	SMC3	chr2:86669750-86670033	HepG2	liver:	n/a	n/a
20	ARID3A	chr2:86669769-86670091	HepG2	liver:	n/a	n/a
21	POLR2A	chr2:86667604-86670250	MCF10A-Er-Src	breast:	n/a	n/a
22	MXI1	chr2:86666852-86671173	SK-N-SH	brain:	n/a	chr2:86669397-86669412
23	IRF1	chr2:86669481-86670136	K562	blood:	n/a	n/a
24	POLR2A	chr2:86669787-86669909	MCF-7	breast:	n/a	n/a
25	ELK1	chr2:86669519-86670263	GM12878	blood:	n/a	n/a
26	STAT3	chr2:86669748-86670078	MCF10A-Er-Src	breast:	n/a	n/a
27	CTCF	chr2:86669780-86669930	HPAF	blood vessel:	n/a	n/a
28	POLR2A	chr2:86669062-86670185	U87	brain:	n/a	n/a
29	POLR2A	chr2:86667425-86670261	H1-neurons	neurons:	n/a	n/a
30	SRF	chr2:86669779-86670155	K562	blood:	n/a	chr2:86669946-86669959 chr2:86669974-86669988 chr2:86669943-86669961 chr2:86669944-86669958 chr2:86669947-86669964 chr2:86669872-86669883 chr2:86669945-86669960 chr2:86669976-86669989 chr2:86669971-86669988 chr2:86669946-86669957 chr2:86669944-86669961 chr2:86669870-86669885 chr2:86669947-86669958 chr2:86669946-86669959 chr2:86669977-86669994 chr2:86669973-86669987 chr2:86669941-86669958 chr2:86669976-86669987 chr2:86669942-86669960 chr2:86669869-86669886 chr2:86669975-86669990 chr2:86669948-86669959 chr2:86669943-86669961 chr2:86669978-86669987 chr2:86669973-86669991 chr2:86669944-86669962 chr2:86669871-86669884 chr2:86669978-86669989 chr2:86669976-86669989 chr2:86669948-86669957 chr2:86669948-86669962 chr2:86669977-86669988 chr2:86669943-86669957
31	FOS	chr2:86669750-86670079	MCF10A-Er-Src	breast:	n/a	n/a
32	MAX	chr2:86669182-86670037	GM12878	blood:	n/a	n/a
33	FOS	chr2:86669791-86670065	MCF10A-Er-Src	breast:	n/a	n/a
34	SRF	chr2:86669760-86670136	GM12878	blood:	n/a	chr2:86669946-86669959 chr2:86669974-86669988 chr2:86669943-86669961 chr2:86669944-86669958 chr2:86669947-86669964 chr2:86669872-86669883 chr2:86669945-86669960 chr2:86669976-86669989 chr2:86669971-86669988 chr2:86669946-86669957 chr2:86669944-86669961 chr2:86669870-86669885 chr2:86669947-86669958 chr2:86669946-86669959 chr2:86669977-86669994 chr2:86669973-86669987 chr2:86669941-86669958 chr2:86669976-86669987 chr2:86669942-86669960 chr2:86669869-86669886 chr2:86669975-86669990 chr2:86669948-86669959 chr2:86669943-86669961 chr2:86669978-86669987 chr2:86669973-86669991 chr2:86669944-86669962 chr2:86669871-86669884 chr2:86669978-86669989 chr2:86669976-86669989 chr2:86669948-86669957 chr2:86669948-86669962 chr2:86669977-86669988 chr2:86669943-86669957
35	POLR2A	chr2:86667730-86670272	IMR90	lung:	n/a	n/a
36	SRF	chr2:86669774-86670112	GM12878	blood:	n/a	chr2:86669946-86669959 chr2:86669974-86669988 chr2:86669943-86669961 chr2:86669944-86669958 chr2:86669947-86669964 chr2:86669872-86669883 chr2:86669945-86669960 chr2:86669976-86669989 chr2:86669971-86669988 chr2:86669946-86669957 chr2:86669944-86669961 chr2:86669870-86669885 chr2:86669947-86669958 chr2:86669946-86669959 chr2:86669977-86669994 chr2:86669973-86669987 chr2:86669941-86669958 chr2:86669976-86669987 chr2:86669942-86669960 chr2:86669869-86669886 chr2:86669975-86669990 chr2:86669948-86669959 chr2:86669943-86669961 chr2:86669978-86669987 chr2:86669973-86669991 chr2:86669944-86669962 chr2:86669871-86669884 chr2:86669978-86669989 chr2:86669976-86669989 chr2:86669948-86669957 chr2:86669948-86669962 chr2:86669977-86669988 chr2:86669943-86669957
37	SRF	chr2:86669358-86670260	ECC-1	luminal epithelium:	n/a	chr2:86669946-86669959 chr2:86669974-86669988 chr2:86669943-86669961 chr2:86669944-86669958 chr2:86669947-86669964 chr2:86669872-86669883 chr2:86669945-86669960 chr2:86669976-86669989 chr2:86669971-86669988 chr2:86669946-86669957 chr2:86669944-86669961 chr2:86669870-86669885 chr2:86669947-86669958 chr2:86669946-86669959 chr2:86669977-86669994 chr2:86669973-86669987 chr2:86669941-86669958 chr2:86669976-86669987 chr2:86669942-86669960 chr2:86669869-86669886 chr2:86669975-86669990 chr2:86669948-86669959 chr2:86669943-86669961 chr2:86669978-86669987 chr2:86669973-86669991 chr2:86669944-86669962 chr2:86669871-86669884 chr2:86669978-86669989 chr2:86669976-86669989 chr2:86669948-86669957 chr2:86669948-86669962 chr2:86669977-86669988 chr2:86669943-86669957
38	ELK1	chr2:86669781-86670106	Hela-S3	cervix:	n/a	n/a
39	TAL1	chr2:86669757-86669883	K562	blood:	n/a	n/a
40	SRF	chr2:86669713-86670129	HepG2	liver:	n/a	chr2:86669946-86669959 chr2:86669974-86669988 chr2:86669943-86669961 chr2:86669944-86669958 chr2:86669947-86669964 chr2:86669872-86669883 chr2:86669945-86669960 chr2:86669976-86669989 chr2:86669971-86669988 chr2:86669946-86669957 chr2:86669944-86669961 chr2:86669870-86669885 chr2:86669947-86669958 chr2:86669946-86669959 chr2:86669977-86669994 chr2:86669973-86669987 chr2:86669941-86669958 chr2:86669976-86669987 chr2:86669942-86669960 chr2:86669869-86669886 chr2:86669975-86669990 chr2:86669948-86669959 chr2:86669943-86669961 chr2:86669978-86669987 chr2:86669973-86669991 chr2:86669944-86669962 chr2:86669871-86669884 chr2:86669978-86669989 chr2:86669976-86669989 chr2:86669948-86669957 chr2:86669948-86669962 chr2:86669977-86669988 chr2:86669943-86669957
41	POLR2A	chr2:86667665-86670010	GM18505	blood:	n/a	n/a
42	MAZ	chr2:86667573-86670229	IMR90	lung:	n/a	chr2:86669091-86669101 chr2:86667843-86667850 chr2:86668345-86668355 chr2:86667840-86667855 chr2:86668553-86668563 chr2:86667838-86667853 chr2:86667842-86667852 chr2:86667842-86667851
43	RFX5	chr2:86669443-86669867	K562	blood:	n/a	n/a
44	SRF	chr2:86669629-86670246	H1-hESC	embryonic stem cell:	n/a	chr2:86669946-86669959 chr2:86669974-86669988 chr2:86669943-86669961 chr2:86669944-86669958 chr2:86669947-86669964 chr2:86669872-86669883 chr2:86669945-86669960 chr2:86669976-86669989 chr2:86669971-86669988 chr2:86669946-86669957 chr2:86669944-86669961 chr2:86669870-86669885 chr2:86669947-86669958 chr2:86669946-86669959 chr2:86669977-86669994 chr2:86669973-86669987 chr2:86669941-86669958 chr2:86669976-86669987 chr2:86669942-86669960 chr2:86669869-86669886 chr2:86669975-86669990 chr2:86669948-86669959 chr2:86669943-86669961 chr2:86669978-86669987 chr2:86669973-86669991 chr2:86669944-86669962 chr2:86669871-86669884 chr2:86669978-86669989 chr2:86669976-86669989 chr2:86669948-86669957 chr2:86669948-86669962 chr2:86669977-86669988 chr2:86669943-86669957
45	SRF	chr2:86669355-86670351	ECC-1	luminal epithelium:	n/a	chr2:86669946-86669959 chr2:86669974-86669988 chr2:86669943-86669961 chr2:86669944-86669958 chr2:86669947-86669964 chr2:86669872-86669883 chr2:86669945-86669960 chr2:86669976-86669989 chr2:86669971-86669988 chr2:86669946-86669957 chr2:86669944-86669961 chr2:86669870-86669885 chr2:86669947-86669958 chr2:86669946-86669959 chr2:86669977-86669994 chr2:86669973-86669987 chr2:86669941-86669958 chr2:86669976-86669987 chr2:86669942-86669960 chr2:86669869-86669886 chr2:86669975-86669990 chr2:86669948-86669959 chr2:86669943-86669961 chr2:86669978-86669987 chr2:86669973-86669991 chr2:86669944-86669962 chr2:86669871-86669884 chr2:86669978-86669989 chr2:86669976-86669989 chr2:86669948-86669957 chr2:86669948-86669962 chr2:86669977-86669988 chr2:86669943-86669957
46	MAX	chr2:86668975-86670177	NB4	blood:	n/a	chr2:86669091-86669101
47	JUND	chr2:86669792-86670064	K562	blood:	n/a	n/a
48	MYC	chr2:86666637-86670343	A549	lung:	n/a	chr2:86669091-86669101 chr2:86667843-86667850 chr2:86668345-86668355 chr2:86667840-86667855 chr2:86668553-86668563 chr2:86667838-86667853 chr2:86667842-86667852 chr2:86667842-86667851
49	SRF	chr2:86669380-86670470	HCT-116	colon:	n/a	chr2:86669946-86669959 chr2:86669974-86669988 chr2:86669943-86669961 chr2:86669944-86669958 chr2:86669947-86669964 chr2:86669872-86669883 chr2:86669945-86669960 chr2:86669976-86669989 chr2:86669971-86669988 chr2:86669946-86669957 chr2:86669944-86669961 chr2:86669870-86669885 chr2:86669947-86669958 chr2:86669946-86669959 chr2:86669977-86669994 chr2:86669973-86669987 chr2:86669941-86669958 chr2:86669976-86669987 chr2:86669942-86669960 chr2:86669869-86669886 chr2:86669975-86669990 chr2:86669948-86669959 chr2:86669943-86669961 chr2:86669978-86669987 chr2:86669973-86669991 chr2:86669944-86669962 chr2:86669871-86669884 chr2:86669978-86669989 chr2:86669976-86669989 chr2:86669948-86669957 chr2:86669948-86669962 chr2:86669977-86669988 chr2:86669943-86669957
50	TCF7L2	chr2:86669744-86670080	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:86669725..86671528-chr2:86682298..86684898,2	MCF-7	breast:
2	chr2:85644431..85647240-chr2:86667731..86670079,2	MCF-7	breast:
3	chr2:86669498..86671776-chr2:86849448..86851643,2	MCF-7	breast:
4	chr2:86667867..86670714-chr2:86788591..86792016,6	K562	blood:
5	chr2:86667181..86671352-chr2:86788569..86792016,9	K562	blood:
6	chr2:86667874..86671580-chr2:86848738..86852940,5	K562	blood:
7	chr2:86669421..86670260-chr3:149374411..149375165,2	Hela-S3	cervix:
8	chr2:86421282..86424146-chr2:86666466..86669906,3	K562	blood:
9	chr2:86421023..86423048-chr2:86667398..86669941,4	MCF-7	breast:
10	chr2:86421987..86423753-chr2:86668406..86670239,2	K562	blood:
11	chr2:86668149..86671762-chr2:86690412..86696565,6	K562	blood:

Variant related genes	Relation type
KDM3A	TF binding region
ENSG00000228363	Chromatin interaction
ENSG00000115548	Chromatin interaction
ENSG00000152292	Chromatin interaction
ENSG00000115561	Chromatin interaction
ENSG00000239305	Chromatin interaction
ENSG00000132305	Chromatin interaction
ENSG00000249884	Chromatin interaction
ENSG00000241313	Chromatin interaction
ENSG00000042493	Chromatin interaction
ENSG00000273080	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10181540	0.86[EUR][1000 genomes]
rs1105862	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1105863	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1105864	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2276624	1.00[EUR][1000 genomes]
rs3731811	1.00[EUR][1000 genomes]
rs3821013	1.00[EUR][1000 genomes]
rs41318646	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58449699	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58740162	0.84[ASN][1000 genomes]
rs58914241	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59064682	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59714766	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61748134	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6547681	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6547683	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6547684	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6707865	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6709505	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6730867	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6731264	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6731801	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6736342	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6744590	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6748880	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6756078	0.90[EUR][1000 genomes]
rs72928446	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73945294	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73949503	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73949512	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7568093	0.90[EUR][1000 genomes]
rs7574555	0.90[EUR][1000 genomes]
rs870372	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs870373	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs870374	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs870375	0.95[EUR][1000 genomes];0.84[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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv3354834	chr2:86667466-86670414	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86667400-86670000	Active TSS	Brain Anterior Caudate	brain
2	chr2:86667400-86670000	Active TSS	HMEC	breast
3	chr2:86667400-86670200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:86667400-86670200	Active TSS	Brain Cingulate Gyrus	brain
5	chr2:86667400-86670200	Active TSS	Brain Hippocampus Middle	brain
6	chr2:86667600-86670000	Active TSS	Primary T cells from cord blood	blood
7	chr2:86667600-86670000	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr2:86667600-86670000	Active TSS	A549	lung
9	chr2:86667600-86670200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr2:86667600-86670200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:86667600-86670200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:86667600-86670200	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr2:86667600-86670200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:86667600-86670200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:86667600-86670200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:86667600-86670200	Active TSS	Brain Substantia Nigra	brain
17	chr2:86667600-86670200	Active TSS	Fetal Brain Female	brain
18	chr2:86667600-86670200	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr2:86667600-86670200	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr2:86667600-86670200	Active TSS	Thymus	Thymus
21	chr2:86667600-86670200	Active TSS	HSMM	muscle
22	chr2:86667600-86670400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:86667600-86670400	Active TSS	Brain Germinal Matrix	brain
24	chr2:86667600-86670400	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr2:86667600-86670400	Active TSS	Fetal Intestine Small	intestine
26	chr2:86667600-86670400	Active TSS	HSMMtube	muscle
27	chr2:86667600-86670800	Active TSS	Colonic Mucosa	Colon
28	chr2:86667800-86670000	Active TSS	H9 Cell Line	embryonic stem cell
29	chr2:86667800-86670000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:86667800-86670000	Active TSS	Esophagus	oesophagus
31	chr2:86667800-86670000	Active TSS	Gastric	stomach
32	chr2:86667800-86670000	Active TSS	NH-A	brain
33	chr2:86667800-86670000	Active TSS	NHDF-Ad	bronchial
34	chr2:86667800-86670200	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr2:86667800-86670200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:86667800-86670200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:86667800-86670200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:86667800-86670200	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr2:86667800-86670200	Active TSS	Fetal Kidney	kidney
40	chr2:86667800-86670200	Active TSS	Ovary	ovary
41	chr2:86667800-86670200	Active TSS	Pancreas	Pancrea
42	chr2:86667800-86670400	Active TSS	H1 Cell Line	embryonic stem cell
43	chr2:86667800-86670400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:86667800-86670400	Active TSS	Brain Angular Gyrus	brain
45	chr2:86667800-86670400	Active TSS	Left Ventricle	heart
46	chr2:86667800-86670600	Active TSS	Psoas Muscle	Psoas
47	chr2:86667800-86671200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:86668000-86670000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:86668000-86670000	Active TSS	Colon Smooth Muscle	Colon
50	chr2:86668000-86670000	Active TSS	Lung	lung

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