Variant report

Variant	rs61895419
Chromosome Location	chr11:65078806-65078807
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr11:65078719-65079179	Hela-S3	cervix:	n/a	n/a
2	TFAP2C	chr11:65078328-65079185	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:65077791-65078823	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZKSCAN1	chr11:65078612-65079205	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:65078112-65078871	MCF-7	breast:	n/a	n/a
6	BRCA1	chr11:65078695-65079196	Hela-S3	cervix:	n/a	n/a
7	STAT3	chr11:65078775-65079294	MCF10A-Er-Src	breast:	n/a	chr11:65079105-65079116
8	POLR2A	chr11:65078573-65078893	K562	blood:	n/a	n/a
9	POLR2A	chr11:65078782-65079042	H1-hESC	embryonic stem cell:	n/a	n/a
10	RCOR1	chr11:65078358-65079255	Hela-S3	cervix:	n/a	n/a
11	STAT3	chr11:65078788-65079286	MCF10A-Er-Src	breast:	n/a	chr11:65079105-65079116
12	POLR2A	chr11:65077655-65079212	Hela-S3	cervix:	n/a	n/a
13	MAX	chr11:65078493-65079154	Hela-S3	cervix:	n/a	n/a
14	STAT3	chr11:65078296-65079270	MCF10A-Er-Src	breast:	n/a	chr11:65079105-65079116
15	POLR2A	chr11:65078105-65079374	U87	brain:	n/a	n/a
16	CEBPB	chr11:65078738-65079265	Hela-S3	cervix:	n/a	n/a
17	NR3C1	chr11:65078794-65079159	A549	lung:	n/a	n/a
18	POLR2A	chr11:65078651-65078929	K562	blood:	n/a	n/a
19	POLR2A	chr11:65078315-65079162	HL-60	blood:	n/a	n/a
20	MYC	chr11:65078622-65079269	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr11:65078420-65079220	U87	brain:	n/a	n/a
22	POLR2A	chr11:65078374-65079195	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr11:65078381-65079254	Hela-S3	cervix:	n/a	n/a
24	ZNF143	chr11:65078692-65079059	Hela-S3	cervix:	n/a	n/a
25	NR3C1	chr11:65078736-65079190	A549	lung:	n/a	n/a
26	MAFK	chr11:65078501-65079132	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:65078067-65079380	U87	brain:	n/a	n/a
28	POLR2A	chr11:65078744-65078919	K562	blood:	n/a	n/a
29	E2F4	chr11:65078776-65079110	MCF10A-Er-Src	breast:	n/a	n/a
30	RAD21	chr11:65078735-65079199	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr11:65078576-65079157	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr11:65078786-65078965	A549	lung:	n/a	n/a
33	FOS	chr11:65078690-65079149	MCF10A-Er-Src	breast:	n/a	n/a
34	SMC3	chr11:65078415-65079193	Hela-S3	cervix:	n/a	n/a
35	MXI1	chr11:65078729-65079205	Hela-S3	cervix:	n/a	chr11:65079120-65079129
36	NR3C1	chr11:65078684-65079117	A549	lung:	n/a	n/a
37	FOS	chr11:65078755-65079174	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr11:65078419-65079219	MCF10A-Er-Src	breast:	n/a	n/a
39	TFAP2A	chr11:65078324-65079132	Hela-S3	cervix:	n/a	chr11:65078915-65078926
40	POLR2A	chr11:65077700-65080063	HepG2	liver:	n/a	n/a
41	STAT3	chr11:65078774-65079269	Hela-S3	cervix:	n/a	chr11:65079105-65079116
42	MYC	chr11:65078376-65079195	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr11:65078353-65079070	K562	blood:	n/a	n/a
44	POLR2A	chr11:65078567-65079271	Hela-S3	cervix:	n/a	n/a
45	MAX	chr11:65078560-65079218	Hela-S3	cervix:	n/a	n/a
46	FOS	chr11:65078622-65079191	MCF10A-Er-Src	breast:	n/a	n/a
47	MAZ	chr11:65078658-65079166	Hela-S3	cervix:	n/a	n/a
48	TCF7L2	chr11:65078367-65079221	Hela-S3	cervix:	n/a	n/a
49	RFX5	chr11:65078692-65079194	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr11:65077702-65079184	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65060136..65062858-chr11:65077231..65083212,5	K562	blood:
2	chr11:65045586..65047170-chr11:65078296..65080185,2	MCF-7	breast:
3	chr11:65075418..65078976-chr11:65080570..65084670,6	MCF-7	breast:
4	chr11:65077300..65079510-chr20:52343639..52345662,2	MCF-7	breast:
5	chr11:65077010..65079617-chr11:65101633..65103467,2	K562	blood:
6	chr11:65074798..65079854-chr11:65080462..65084374,8	K562	blood:
7	chr11:65072805..65075705-chr11:65077209..65079832,4	K562	blood:

No data

Variant related genes	Relation type
CDC42EP2	TF binding region
ENSG00000149798	Chromatin interaction
ENSG00000014138	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3782093	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61895407	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
4	nsv897714	chr11:65076918-65091609	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61895419	SLC22A20	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65063800-65081200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr11:65065000-65081800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr11:65065000-65081800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:65066000-65081800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:65066400-65080800	Weak transcription	Brain Germinal Matrix	brain
6	chr11:65066600-65081600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:65066600-65081800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:65067000-65081800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr11:65068200-65079200	Genic enhancers	Fetal Intestine Small	intestine
10	chr11:65068600-65079800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:65072000-65081000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:65072800-65081800	Weak transcription	Dnd41	blood
13	chr11:65073400-65079000	Weak transcription	Thymus	Thymus
14	chr11:65074200-65079200	Genic enhancers	Fetal Stomach	stomach
15	chr11:65074800-65079400	Enhancers	NHDF-Ad	bronchial
16	chr11:65075000-65079200	Enhancers	Right Ventricle	heart
17	chr11:65075000-65079800	Bivalent Enhancer	Placenta	Placenta
18	chr11:65075200-65079200	Enhancers	Lung	lung
19	chr11:65075400-65080800	Enhancers	Duodenum Mucosa	Duodenum
20	chr11:65075600-65079800	Enhancers	Spleen	Spleen
21	chr11:65075800-65079800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:65076400-65081000	Weak transcription	Fetal Heart	heart
23	chr11:65076400-65081000	Weak transcription	Fetal Kidney	kidney
24	chr11:65076400-65081800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:65076600-65080000	Enhancers	Fetal Muscle Trunk	muscle
26	chr11:65076600-65080600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr11:65076600-65080800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:65076600-65081800	Weak transcription	GM12878-XiMat	blood
29	chr11:65076800-65081000	Enhancers	Fetal Muscle Leg	muscle
30	chr11:65076800-65081800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:65076800-65081800	Weak transcription	K562	blood
32	chr11:65077000-65081000	Weak transcription	HUVEC	blood vessel
33	chr11:65077200-65079000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr11:65077200-65079200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:65077200-65079400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:65077200-65079800	Enhancers	HepG2	liver
37	chr11:65077400-65079000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:65077400-65079000	Enhancers	Right Atrium	heart
39	chr11:65077400-65079200	Enhancers	Brain Hippocampus Middle	brain
40	chr11:65077400-65079200	Enhancers	Fetal Lung	lung
41	chr11:65077400-65079200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr11:65077400-65079400	Enhancers	Fetal Intestine Large	intestine
43	chr11:65077400-65079400	Enhancers	A549	lung
44	chr11:65077600-65079000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:65077600-65079000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:65077600-65079000	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr11:65077600-65079200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:65077600-65079200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:65077600-65079200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:65077600-65079200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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