Variant report

Variant	rs10203320
Chromosome Location	chr2:9771620-9771621
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	CBX3	chr2:9770902-9772019	K562	blood:	n/a	n/a
2	MXI1	chr2:9769761-9771632	GM12878	blood:	n/a	chr2:9771395-9771410 chr2:9771393-9771408
3	POLR2A	chr2:9769381-9771687	MCF10A-Er-Src	breast:	n/a	n/a
4	CREB1	chr2:9770162-9771743	A549	lung:	n/a	n/a
5	TCF12	chr2:9770887-9771717	A549	lung:	n/a	chr2:9770936-9770943
6	EGR1	chr2:9770481-9771746	HCT-116	colon:	n/a	chr2:9771211-9771224 chr2:9771261-9771274 chr2:9771176-9771183
7	RFX5	chr2:9770922-9771783	GM12878	blood:	n/a	chr2:9771393-9771401 chr2:9771395-9771404 chr2:9771394-9771409 chr2:9771231-9771240 chr2:9771392-9771406 chr2:9771394-9771409 chr2:9771391-9771406 chr2:9771394-9771409 chr2:9771393-9771410
8	USF1	chr2:9770907-9771841	A549	lung:	n/a	n/a
9	POLR2A	chr2:9769301-9771749	IMR90	lung:	n/a	n/a
10	POLR2A	chr2:9770325-9771737	SK-N-SH	brain:	n/a	n/a
11	SP1	chr2:9770038-9771824	A549	lung:	n/a	chr2:9770671-9770680 chr2:9771267-9771276 chr2:9771253-9771267 chr2:9771262-9771276 chr2:9770666-9770680 chr2:9770670-9770679 chr2:9770669-9770681 chr2:9771209-9771218 chr2:9770671-9770680 chr2:9771208-9771220 chr2:9771265-9771277 chr2:9771265-9771276 chr2:9771209-9771223 chr2:9771208-9771220 chr2:9771229-9771250 chr2:9770670-9770680 chr2:9770669-9770681 chr2:9771266-9771275 chr2:9771210-9771219 chr2:9770670-9770680 chr2:9771265-9771277
12	POLR2A	chr2:9770382-9771719	HUVEC	blood vessel:	n/a	n/a
13	MAX	chr2:9770097-9771725	MCF-7	breast:	n/a	chr2:9771395-9771404
14	GTF2F1	chr2:9770955-9771710	Hela-S3	cervix:	n/a	n/a
15	TCF7L2	chr2:9770884-9771701	Hela-S3	cervix:	n/a	chr2:9771105-9771114 chr2:9771104-9771113 chr2:9771102-9771116
16	POLR2A	chr2:9770377-9771640	Gliobla	brain:	n/a	n/a
17	ELF1	chr2:9770919-9771623	A549	lung:	n/a	n/a
18	TBL1XR1	chr2:9770931-9771756	K562	blood:	n/a	n/a
19	HA-E2F1	chr2:9770063-9771759	MCF-7	breast:	n/a	chr2:9770221-9770229 chr2:9771494-9771504 chr2:9770218-9770229 chr2:9770729-9770738 chr2:9770219-9770230 chr2:9770941-9770953 chr2:9770221-9770229 chr2:9771269-9771278 chr2:9771246-9771261 chr2:9770220-9770230
20	TCF12	chr2:9770172-9771754	ECC-1	luminal epithelium:	n/a	chr2:9770936-9770943
21	TEAD4	chr2:9770876-9771653	K562	blood:	n/a	n/a
22	NR3C1	chr2:9770295-9771691	A549	lung:	n/a	chr2:9770613-9770626
23	RAD21	chr2:9771291-9771710	A549	lung:	n/a	n/a
24	IRF1	chr2:9770655-9771649	K562	blood:	n/a	chr2:9770669-9770683 chr2:9771206-9771220 chr2:9771265-9771279
25	USF1	chr2:9771112-9771626	SK-N-SH_RA	brain:	n/a	n/a
26	POLR2A	chr2:9769881-9771641	K562	blood:	n/a	n/a
27	JUND	chr2:9770574-9771648	K562	blood:	n/a	chr2:9770674-9770683
28	TBP	chr2:9770937-9771643	GM12878	blood:	n/a	n/a
29	RAD21	chr2:9771264-9771668	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr2:9769813-9771815	H1-neurons	neurons:	n/a	n/a
31	MAX	chr2:9770310-9771623	HepG2	liver:	n/a	chr2:9771395-9771404
32	RCOR1	chr2:9771117-9771867	GM12878	blood:	n/a	n/a
33	RFX5	chr2:9770238-9772162	Hela-S3	cervix:	n/a	chr2:9771393-9771401 chr2:9771395-9771404 chr2:9771394-9771409 chr2:9771231-9771240 chr2:9771392-9771406 chr2:9771394-9771409 chr2:9771391-9771406 chr2:9771394-9771409 chr2:9771393-9771410
34	CREB1	chr2:9770926-9771715	ECC-1	luminal epithelium:	n/a	n/a
35	EP300	chr2:9770864-9771692	HepG2	liver:	n/a	chr2:9771073-9771089
36	MAZ	chr2:9768822-9771735	IMR90	lung:	n/a	chr2:9771395-9771404
37	TCF12	chr2:9769380-9771929	A549	lung:	n/a	chr2:9770936-9770943
38	MYBL2	chr2:9770744-9771694	HepG2	liver:	n/a	n/a
39	MAFK	chr2:9770949-9771696	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr2:9770027-9771640	GM19193	blood:	n/a	n/a
41	CREB1	chr2:9770175-9771851	HepG2	liver:	n/a	n/a
42	ELF1	chr2:9770805-9771710	MCF-7	breast:	n/a	n/a
43	CREB1	chr2:9770920-9771645	K562	blood:	n/a	n/a
44	CREB1	chr2:9770854-9771783	GM12878	blood:	n/a	n/a
45	EP300	chr2:9770988-9771670	GM12878	blood:	n/a	chr2:9771073-9771089
46	ZNF143	chr2:9770701-9771671	GM12878	blood:	n/a	chr2:9771208-9771226 chr2:9770731-9770741 chr2:9771006-9771016
47	TEAD4	chr2:9770902-9771716	K562	blood:	n/a	n/a
48	ZC3H11A	chr2:9770990-9771696	K562	blood:	n/a	n/a
49	RFX5	chr2:9770927-9771931	K562	blood:	n/a	chr2:9771393-9771401 chr2:9771395-9771404 chr2:9771394-9771409 chr2:9771231-9771240 chr2:9771392-9771406 chr2:9771394-9771409 chr2:9771391-9771406 chr2:9771394-9771409 chr2:9771393-9771410
50	CREB1	chr2:9770763-9771773	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:9770089..9772474-chr2:10090151..10092445,2	K562	blood:
2	chr2:9693170..9697860-chr2:9768724..9771765,11	MCF-7	breast:
3	chr2:9752399..9758466-chr2:9767981..9772630,10	MCF-7	breast:
4	chr2:9746496..9749378-chr2:9771144..9772887,2	MCF-7	breast:
5	chr17:57917133..57919241-chr2:9769843..9772304,3	MCF-7	breast:
6	chr2:9767473..9774138-chr2:9774735..9780659,16	MCF-7	breast:
7	chr2:9769329..9772328-chr2:10259369..10262409,6	K562	blood:
8	chr2:9694267..9698929-chr2:9766642..9773016,9	K562	blood:
9	chr2:9695084..9698053-chr2:9768518..9772298,6	MCF-7	breast:
10	chr2:9769329..9772234-chr2:10259369..10263419,6	K562	blood:
11	chr2:9769809..9772321-chr7:1588274..1590769,2	MCF-7	breast:
12	chr2:9769155..9773590-chr2:9774278..9779571,11	MCF-7	breast:

Variant related genes	Relation type
YWHAQ	TF binding region
ENSG00000164855	Chromatin interaction
ENSG00000151694	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000207086	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000134317	Chromatin interaction
ENSG00000240687	Chromatin interaction
ENSG00000272524	Chromatin interaction
ENSG00000271855	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10187701	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495568	1.00[ASN][1000 genomes]
rs11695174	1.00[ASN][1000 genomes]
rs1534043	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867104	1.00[ASN][1000 genomes]
rs17453871	1.00[ASN][1000 genomes]
rs55921604	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62121160	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62121164	1.00[ASN][1000 genomes]
rs62121165	1.00[ASN][1000 genomes]
rs62129867	1.00[ASN][1000 genomes]
rs72777055	1.00[ASN][1000 genomes]
rs72777067	1.00[ASN][1000 genomes]
rs72780951	1.00[ASN][1000 genomes]
rs868095	1.00[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	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1011802	chr2:9766171-9808284	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv3404576	chr2:9769526-9772474	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9767800-9771800	Active TSS	Pancreas	Pancrea
2	chr2:9768000-9771800	Active TSS	Right Ventricle	heart
3	chr2:9768400-9771800	Active TSS	Aorta	Aorta
4	chr2:9768400-9771800	Active TSS	Left Ventricle	heart
5	chr2:9768400-9771800	Active TSS	Psoas Muscle	Psoas
6	chr2:9768400-9771800	Active TSS	Right Atrium	heart
7	chr2:9768600-9771800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:9768600-9771800	Active TSS	Colonic Mucosa	Colon
9	chr2:9768600-9771800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr2:9768600-9771800	Active TSS	Ovary	ovary
11	chr2:9768800-9771800	Active TSS	NHLF	lung
12	chr2:9769000-9771800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:9769000-9772000	Active TSS	Fetal Brain Female	brain
14	chr2:9769000-9772600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr2:9769400-9771800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:9769400-9771800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:9769400-9771800	Active TSS	Brain Angular Gyrus	brain
18	chr2:9769400-9771800	Active TSS	Placenta Amnion	Placenta Amnion
19	chr2:9769400-9772600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr2:9769600-9771800	Active TSS	Esophagus	oesophagus
21	chr2:9769600-9772000	Active TSS	HUVEC	blood vessel
22	chr2:9769800-9771800	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr2:9769800-9772200	Active TSS	Thymus	Thymus
24	chr2:9770200-9771800	Active TSS	Stomach Smooth Muscle	stomach
25	chr2:9770400-9771800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:9770600-9771800	Active TSS	Brain Germinal Matrix	brain
27	chr2:9770600-9772400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:9771000-9772200	ZNF genes & repeats	Fetal Thymus	thymus
29	chr2:9771400-9771800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:9771400-9771800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr2:9771400-9771800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr2:9771400-9771800	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr2:9771400-9771800	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr2:9771400-9771800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr2:9771400-9771800	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr2:9771400-9771800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr2:9771400-9771800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:9771400-9771800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr2:9771400-9771800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:9771400-9771800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:9771400-9771800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:9771400-9771800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:9771400-9771800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:9771400-9771800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:9771400-9771800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:9771400-9771800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:9771400-9771800	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr2:9771400-9771800	Flanking Active TSS	Liver	Liver
49	chr2:9771400-9771800	Flanking Active TSS	Placenta	Placenta
50	chr2:9771400-9771800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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