Variant report

Variant	rs61885561
Chromosome Location	chr11:46300312-46300313
allele	C/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	CCNT2	chr11:46299648-46300317	K562	blood:	n/a	chr11:46300283-46300292
2	TBP	chr11:46299738-46300728	K562	blood:	n/a	n/a
3	TBP	chr11:46300236-46300368	GM12878	blood:	n/a	n/a
4	HEY1	chr11:46299916-46300466	K562	blood:	n/a	n/a
5	BHLHE40	chr11:46300041-46300480	K562	blood:	n/a	n/a
6	CHD2	chr11:46300000-46300852	K562	blood:	n/a	n/a
7	RCOR1	chr11:46299974-46301610	K562	blood:	n/a	n/a
8	POLR2A	chr11:46299508-46301831	PFSK-1	brain:	n/a	n/a
9	CTCF	chr11:46299954-46300384	H1-hESC	embryonic stem cell:	n/a	chr11:46300164-46300177 chr11:46300162-46300178 chr11:46300353-46300366
10	NR2F2	chr11:46299762-46300734	K562	blood:	n/a	n/a
11	ZNF143	chr11:46299988-46300680	H1-hESC	embryonic stem cell:	n/a	chr11:46300310-46300328
12	MXI1	chr11:46298666-46300447	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr11:46299468-46300670	K562	blood:	n/a	n/a
14	HDAC2	chr11:46299965-46300314	K562	blood:	n/a	chr11:46299999-46300018
15	ZNF143	chr11:46299987-46300361	GM12878	blood:	n/a	chr11:46300310-46300328
16	POLR2A	chr11:46299784-46301862	PFSK-1	brain:	n/a	n/a
17	CTBP2	chr11:46299652-46300609	H1-hESC	embryonic stem cell:	n/a	n/a
18	EBF1	chr11:46299941-46300338	GM12878	blood:	n/a	chr11:46300128-46300138 chr11:46300287-46300296 chr11:46300128-46300139 chr11:46300129-46300138
19	ZBTB7A	chr11:46299123-46300429	K562	blood:	n/a	n/a
20	SIN3A	chr11:46298974-46300667	H1-hESC	embryonic stem cell:	n/a	chr11:46299342-46299353
21	RAD21	chr11:46299952-46300350	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr11:46300200-46300350	NHEK	skin:	n/a	n/a
23	SMC3	chr11:46299976-46300565	K562	blood:	n/a	n/a
24	POLR2A	chr11:46299754-46301142	K562	blood:	n/a	n/a
25	CTCF	chr11:46299914-46300560	IMR90	lung:	n/a	chr11:46299925-46299938 chr11:46300164-46300177 chr11:46300162-46300178 chr11:46300353-46300366
26	RAD21	chr11:46299900-46300351	SK-N-SH_RA	brain:	n/a	n/a
27	ZNF384	chr11:46300046-46300542	K562	blood:	n/a	n/a
28	CTCF	chr11:46299941-46300318	K562	blood:	n/a	chr11:46300164-46300177 chr11:46300162-46300178
29	CTCF	chr11:46300260-46300410	A549	lung:	n/a	chr11:46300353-46300366
30	SMC3	chr11:46299902-46300313	GM12878	blood:	n/a	chr11:46299922-46299932
31	YY1	chr11:46299904-46300457	K562	blood:	n/a	n/a
32	POLR2A	chr11:46299517-46300637	K562	blood:	n/a	n/a
33	TEAD4	chr11:46299797-46301494	K562	blood:	n/a	n/a
34	RAD21	chr11:46299618-46300805	IMR90	lung:	n/a	chr11:46300664-46300671
35	MYC	chr11:46299728-46300653	K562	blood:	n/a	chr11:46300304-46300314
36	TAF1	chr11:46299907-46300923	PFSK-1	brain:	n/a	n/a
37	CTCF	chr11:46299908-46300375	K562	blood:	n/a	chr11:46299925-46299938 chr11:46300164-46300177 chr11:46300162-46300178 chr11:46300353-46300366
38	YY1	chr11:46299820-46300404	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr11:46299913-46300379	K562	blood:	n/a	n/a
40	RAD21	chr11:46299782-46300668	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr11:46299773-46300707	U87	brain:	n/a	n/a
42	JUND	chr11:46299749-46300604	K562	blood:	n/a	n/a
43	ZNF143	chr11:46299982-46300436	K562	blood:	n/a	chr11:46300310-46300328
44	TBP	chr11:46300022-46300333	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr11:46299747-46300372	K562	blood:	n/a	chr11:46299925-46299938 chr11:46300164-46300177 chr11:46300162-46300178 chr11:46300353-46300366
46	PML	chr11:46299943-46300552	K562	blood:	n/a	chr11:46300024-46300032
47	POLR2A	chr11:46299039-46301613	IMR90	lung:	n/a	n/a
48	MXI1	chr11:46298643-46301866	IMR90	lung:	n/a	n/a
49	TBL1XR1	chr11:46300240-46300570	K562	blood:	n/a	n/a
50	CTCF	chr11:46299516-46300823	SK-N-SH	brain:	n/a	chr11:46299925-46299938 chr11:46300164-46300177 chr11:46299631-46299644 chr11:46300162-46300178 chr11:46300353-46300366

No.	Distal block	Cell Line	Cell type
1	chr11:46257536..46260589-chr11:46299825..46303557,4	K562	blood:
2	chr11:46292495..46300520-chr11:46315192..46320567,9	MCF-7	breast:
3	chr11:46299347..46301485-chr11:46304045..46305956,2	MCF-7	breast:
4	chr11:46300020..46301678-chr11:46304027..46305716,2	K562	blood:
5	chr11:46299635..46300454-chr11:46329818..46330768,5	K562	blood:
6	chr11:46283063..46284640-chr11:46299295..46301422,2	K562	blood:
7	chr11:46299380..46302376-chr11:46328886..46330806,2	K562	blood:
8	chr11:46257536..46260038-chr11:46298629..46301325,2	K562	blood:
9	chr11:46293083..46308698-chr11:46310742..46320666,35	K562	blood:
10	chr11:46299997..46302938-chr11:46322600..46325480,2	K562	blood:
11	chr11:46296992..46299391-chr11:46300223..46303625,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255007	TF binding region
ENSG00000254639	Chromatin interaction
ENSG00000157613	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11038843	0.96[ASN][1000 genomes]
rs11038851	0.92[ASN][1000 genomes]
rs61884156	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs61884157	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs61884158	0.89[ASN][1000 genomes]
rs7105423	0.96[ASN][1000 genomes]
rs7106583	0.96[ASN][1000 genomes]
rs72910039	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	nsv1051344	chr11:46188818-46306447	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv541028	chr11:46188818-46306447	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46298400-46302400	Weak transcription	Fetal Heart	heart
2	chr11:46298800-46300400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr11:46298800-46300400	Active TSS	Right Ventricle	heart
4	chr11:46298800-46300400	Active TSS	Sigmoid Colon	Sigmoid Colon
5	chr11:46298800-46300400	Active TSS	NH-A	brain
6	chr11:46298800-46300600	Active TSS	HSMMtube	muscle
7	chr11:46298800-46300800	Active TSS	Stomach Mucosa	stomach
8	chr11:46298800-46301200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
9	chr11:46299000-46300400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:46299000-46300400	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr11:46299000-46300400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr11:46299000-46300400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr11:46299000-46300400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr11:46299000-46300400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
15	chr11:46299000-46300400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
16	chr11:46299000-46300400	Active TSS	Fetal Intestine Large	intestine
17	chr11:46299000-46300400	Weak transcription	Hela-S3	cervix
18	chr11:46299000-46300600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr11:46299000-46300600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr11:46299000-46300600	Active TSS	H9 Cell Line	embryonic stem cell
21	chr11:46299000-46300600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:46299000-46300600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:46299000-46300600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:46299000-46300600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:46299000-46300600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
26	chr11:46299000-46300600	Active TSS	Psoas Muscle	Psoas
27	chr11:46299000-46300600	Active TSS	NHLF	lung
28	chr11:46299000-46300600	Active TSS	Osteobl	bone
29	chr11:46299000-46300800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:46299000-46300800	Active TSS	HSMM	muscle
31	chr11:46299000-46300800	Active TSS	NHDF-Ad	bronchial
32	chr11:46299000-46301200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr11:46299000-46301800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr11:46299200-46300400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:46299200-46300400	Active TSS	Fetal Intestine Small	intestine
36	chr11:46299200-46300400	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr11:46299200-46300400	Active TSS	K562	blood
38	chr11:46299200-46300600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:46299200-46300600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:46299200-46300600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
41	chr11:46299200-46300600	Active TSS	Pancreas	Pancrea
42	chr11:46299200-46300600	Active TSS	Small Intestine	intestine
43	chr11:46299200-46300800	Active TSS	Fetal Kidney	kidney
44	chr11:46299200-46300800	Active TSS	Gastric	stomach
45	chr11:46299400-46300400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
46	chr11:46299400-46300400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
47	chr11:46299400-46301400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
48	chr11:46299600-46300400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
49	chr11:46299600-46300400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr11:46299600-46300400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus

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