Variant report

Variant	rs10211067
Chromosome Location	chr2:98703659-98703660
allele	G/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	ZBTB7A	chr2:98703189-98704130	ECC-1	luminal epithelium:	n/a	n/a
2	MYC	chr2:98703508-98703730	MCF10A-Er-Src	breast:	n/a	chr2:98703539-98703549
3	YY1	chr2:98703295-98703938	H1-hESC	embryonic stem cell:	n/a	chr2:98703542-98703556
4	YY1	chr2:98703449-98704024	ECC-1	luminal epithelium:	n/a	chr2:98703542-98703556
5	POLR2A	chr2:98703315-98703921	MCF-7	breast:	n/a	n/a
6	ESR1	chr2:98703408-98703838	T-47D	breast:	n/a	n/a
7	PAX5	chr2:98703240-98703780	GM12892	blood:	n/a	n/a
8	POLR2A	chr2:98703306-98703937	H1-neurons	neurons:	n/a	n/a
9	NFIC	chr2:98703256-98704132	ECC-1	luminal epithelium:	n/a	n/a
10	SIN3AK20	chr2:98703285-98703867	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZBTB7A	chr2:98703142-98703815	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr2:98703373-98703980	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr2:98703327-98704066	MCF-7	breast:	n/a	n/a
14	ELF1	chr2:98703130-98704204	GM12878	blood:	n/a	n/a
15	YY1	chr2:98703385-98703716	K562	blood:	n/a	chr2:98703542-98703556
16	MAX	chr2:98703553-98703938	SK-N-SH	brain:	n/a	n/a
17	SIN3A	chr2:98703069-98703755	GM12878	blood:	n/a	n/a
18	TCF12	chr2:98703301-98703661	H1-hESC	embryonic stem cell:	n/a	chr2:98703457-98703464
19	YY1	chr2:98703322-98703875	GM12892	blood:	n/a	chr2:98703542-98703556
20	ZNF143	chr2:98702858-98703856	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr2:98703468-98704315	MCF10A-Er-Src	breast:	n/a	n/a
22	ESR1	chr2:98703220-98704174	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr2:98703191-98704053	A549	lung:	n/a	chr2:98703485-98703495 chr2:98703539-98703549
24	HA-E2F1	chr2:98702930-98704164	MCF-7	breast:	n/a	chr2:98703193-98703200 chr2:98703543-98703553 chr2:98703193-98703200 chr2:98703193-98703200 chr2:98703570-98703579
25	MAX	chr2:98703347-98704068	H1-hESC	embryonic stem cell:	n/a	chr2:98703485-98703495 chr2:98703539-98703549
26	TCF12	chr2:98703198-98704053	ECC-1	luminal epithelium:	n/a	chr2:98703457-98703464
27	MXI1	chr2:98703009-98703975	H1-hESC	embryonic stem cell:	n/a	n/a
28	RUNX3	chr2:98703333-98703755	GM12878	blood:	n/a	n/a
29	E2F4	chr2:98703395-98703723	MCF10A-Er-Src	breast:	n/a	chr2:98703543-98703553 chr2:98703570-98703579
30	MAX	chr2:98702937-98704073	ECC-1	luminal epithelium:	n/a	chr2:98703485-98703495 chr2:98703539-98703549 chr2:98702964-98702974 chr2:98703023-98703032
31	STAT1	chr2:98703447-98703726	GM12878	blood:	n/a	n/a
32	MXI1	chr2:98703504-98703699	GM12878	blood:	n/a	n/a
33	ESR1	chr2:98703368-98703788	ECC-1	luminal epithelium:	n/a	n/a
34	YY1	chr2:98703244-98703980	H1-hESC	embryonic stem cell:	n/a	chr2:98703542-98703556
35	POLR2A	chr2:98702948-98703865	MCF10A-Er-Src	breast:	n/a	n/a
36	TCF12	chr2:98703246-98704014	ECC-1	luminal epithelium:	n/a	chr2:98703457-98703464
37	PAX5	chr2:98703304-98703785	GM12878	blood:	n/a	n/a
38	ESR1	chr2:98703429-98703789	T-47D	breast:	n/a	n/a
39	FOXA1	chr2:98703445-98703726	T-47D	breast:	n/a	n/a
40	SIN3AK20	chr2:98702877-98704024	MCF-7	breast:	n/a	n/a
41	ESR1	chr2:98703081-98704112	ECC-1	luminal epithelium:	n/a	n/a
42	MAX	chr2:98703293-98704056	MCF-7	breast:	n/a	chr2:98703485-98703495 chr2:98703539-98703549
43	E2F6	chr2:98703169-98704096	H1-hESC	embryonic stem cell:	n/a	chr2:98703193-98703200 chr2:98703543-98703553 chr2:98703193-98703200 chr2:98703193-98703200 chr2:98703570-98703579
44	ESR1	chr2:98703346-98703812	ECC-1	luminal epithelium:	n/a	n/a
45	E2F6	chr2:98703309-98704023	A549	lung:	n/a	chr2:98703543-98703553 chr2:98703570-98703579
46	SIN3AK20	chr2:98702796-98704320	MCF-7	breast:	n/a	n/a
47	MAX	chr2:98703090-98704102	ECC-1	luminal epithelium:	n/a	chr2:98703485-98703495 chr2:98703539-98703549
48	YY1	chr2:98703233-98704020	ECC-1	luminal epithelium:	n/a	chr2:98703542-98703556
49	SIN3AK20	chr2:98703438-98703764	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr2:98703579-98703796	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98610350..98614892-chr2:98700211..98704879,10	MCF-7	breast:
2	chr2:98612119..98614854-chr2:98702248..98705786,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNGA3-3	chr2:98703648-98703826	NONHSAT072691

Variant related genes	Relation type
VWA3B	TF binding region
ENSG00000075568	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10196559	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13427118	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56899755	0.88[EUR][1000 genomes]
rs6543280	0.92[MEX][hapmap]
rs6705096	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711299	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6729411	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6753823	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6756742	0.93[MEX][hapmap]
rs7355475	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7590131	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv834309	chr2:98643304-98793838	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv527817	chr2:98701043-98791433	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98702800-98703800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr2:98702800-98704000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
3	chr2:98702800-98704000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr2:98702800-98704000	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr2:98702800-98704000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:98702800-98704000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr2:98702800-98704200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr2:98702800-98704200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:98702800-98704200	Active TSS	Brain Germinal Matrix	brain
10	chr2:98702800-98704200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr2:98702800-98704200	Bivalent/Poised TSS	A549	lung
12	chr2:98702800-98704400	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr2:98702800-98704400	Flanking Active TSS	Liver	Liver
14	chr2:98702800-98704400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr2:98702800-98705200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr2:98703000-98703800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:98703000-98703800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:98703000-98703800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:98703000-98703800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:98703000-98703800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:98703000-98703800	Active TSS	Stomach Mucosa	stomach
22	chr2:98703000-98703800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
23	chr2:98703000-98703800	Flanking Bivalent TSS/Enh	Osteobl	bone
24	chr2:98703000-98704000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr2:98703000-98704000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr2:98703000-98704000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr2:98703000-98704000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr2:98703000-98704000	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:98703000-98704000	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr2:98703000-98704000	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr2:98703000-98704000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr2:98703000-98704000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:98703000-98704000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:98703000-98704000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:98703000-98704000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:98703000-98704000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:98703000-98704000	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr2:98703000-98704000	Flanking Active TSS	Esophagus	oesophagus
39	chr2:98703000-98704000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr2:98703000-98704000	Active TSS	Fetal Kidney	kidney
41	chr2:98703000-98704000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
42	chr2:98703000-98704000	Active TSS	Psoas Muscle	Psoas
43	chr2:98703000-98704000	Bivalent/Poised TSS	HSMM	muscle
44	chr2:98703000-98704000	Bivalent/Poised TSS	HSMMtube	muscle
45	chr2:98703000-98704000	Flanking Active TSS	NH-A	brain
46	chr2:98703000-98704200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr2:98703000-98704200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:98703000-98704200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr2:98703000-98704200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:98703000-98704200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin

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