Variant report

Variant	rs1192
Chromosome Location	chr11:85374993-85374994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:197)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:197 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr11:85374676-85376316	HEK293-T-REx	kidney:	n/a	chr11:85374960-85374981
2	POLR2A	chr11:85373454-85376451	MCF10A-Er-Src	breast:	n/a	n/a
3	TAF1	chr11:85374821-85376392	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr11:85374950-85376486	GM18951	blood:	n/a	n/a
5	POLR2A	chr11:85374939-85376408	GM12892	blood:	n/a	n/a
6	POLR2A	chr11:85374061-85376440	Hela-S3	cervix:	n/a	n/a
7	REST	chr11:85373864-85376769	H1-neurons	neurons:	n/a	chr11:85374425-85374434
8	CHD2	chr11:85374756-85377111	GM12878	blood:	n/a	chr11:85376228-85376237
9	MAX	chr11:85374771-85376415	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr11:85374849-85376422	Gliobla	brain:	n/a	n/a
11	RAD21	chr11:85374816-85376386	IMR90	lung:	n/a	n/a
12	TRIM28	chr11:85374966-85376532	K562	blood:	n/a	n/a
13	POLR2A	chr11:85374990-85376494	NB4	blood:	n/a	n/a
14	CTCF	chr11:85374880-85375030	GM12868	blood:	n/a	n/a
15	POLR2A	chr11:85374759-85376369	GM12891	blood:	n/a	n/a
16	POLR2A	chr11:85374980-85376497	HCT-116	colon:	n/a	n/a
17	PML	chr11:85374201-85376557	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:85374793-85376323	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:85374452-85376493	GM18505	blood:	n/a	n/a
20	SIN3AK20	chr11:85374672-85375411	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr11:85374803-85376455	MCF-7	breast:	n/a	n/a
22	MYC	chr11:85374866-85375170	MCF-7	breast:	n/a	n/a
23	SMC3	chr11:85374855-85376490	Hela-S3	cervix:	n/a	chr11:85376213-85376220
24	MAX	chr11:85374748-85375069	K562	blood:	n/a	n/a
25	MAZ	chr11:85374678-85376579	IMR90	lung:	n/a	n/a
26	SMARCC1	chr11:85374335-85376388	Hela-S3	cervix:	n/a	n/a
27	MAX	chr11:85374567-85376418	K562	blood:	n/a	n/a
28	POLR2A	chr11:85374493-85376420	GM19193	blood:	n/a	n/a
29	JUND	chr11:85374984-85376311	A549	lung:	n/a	chr11:85376278-85376287
30	CHD2	chr11:85374915-85376692	Hela-S3	cervix:	n/a	chr11:85376228-85376237
31	TCF12	chr11:85374873-85376528	MCF-7	breast:	n/a	n/a
32	POLR2A	chr11:85374832-85376429	HCT-116	colon:	n/a	n/a
33	CTCF	chr11:85374960-85375110	HRPEpiC	eye:	n/a	n/a
34	MXI1	chr11:85373954-85376472	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr11:85374802-85376291	GM12878	blood:	n/a	n/a
36	MAX	chr11:85374185-85376474	MCF-7	breast:	n/a	n/a
37	POU2F2	chr11:85374974-85375652	GM12878	blood:	n/a	n/a
38	TEAD4	chr11:85374883-85376602	K562	blood:	n/a	n/a
39	TAF1	chr11:85374818-85376498	MCF-7	breast:	n/a	n/a
40	HEY1	chr11:85374966-85376358	K562	blood:	n/a	n/a
41	CHD1	chr11:85374350-85375795	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr11:85374780-85376510	HepG2	liver:	n/a	n/a
43	POLR2A	chr11:85374133-85376451	GM12878	blood:	n/a	n/a
44	TAF1	chr11:85374759-85376469	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr11:85374855-85376471	ECC-1	luminal epithelium:	n/a	n/a
46	MAX	chr11:85374769-85376532	ECC-1	luminal epithelium:	n/a	n/a
47	MYC	chr11:85374723-85376500	K562	blood:	n/a	n/a
48	RUNX3	chr11:85374864-85376451	GM12878	blood:	n/a	n/a
49	SIN3AK20	chr11:85374731-85375504	K562	blood:	n/a	n/a
50	SMARCB1	chr11:85374729-85376315	Hela-S3	cervix:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85374651..85376629-chr11:85434195..85435833,2	MCF-7	breast:
2	chr1:45185897..45187685-chr11:85374609..85376922,2	MCF-7	breast:
3	chr11:85373065..85375528-chr11:88070607..88072114,2	K562	blood:
4	chr11:85372288..85375071-chr11:85778441..85780061,2	MCF-7	breast:
5	chr11:85374773..85376570-chr11:85955631..85957196,2	MCF-7	breast:
6	chr11:85374169..85377247-chr11:85434867..85438072,3	MCF-7	breast:
7	chr11:85374847..85376948-chr11:85415387..85418277,3	K562	blood:
8	chr11:85335097..85341629-chr11:85372332..85377145,15	MCF-7	breast:
9	chr11:85373957..85377643-chr11:85392159..85394287,3	K562	blood:
10	chr11:85337740..85341959-chr11:85373645..85377756,6	MCF-7	breast:
11	chr11:85374267..85376584-chr11:86013241..86015955,2	MCF-7	breast:
12	chr11:85374551..85377717-chr11:85388541..85395552,6	MCF-7	breast:
13	chr11:85373450..85376919-chr11:85429977..85433486,3	K562	blood:
14	chr11:85371938..85377336-chr11:85519037..85522510,5	MCF-7	breast:
15	chr11:85374332..85377604-chr11:85518032..85524824,7	MCF-7	breast:

No data

Variant related genes	Relation type
CREBZF	TF binding region
ENSG00000137501	Chromatin interaction
ENSG00000074266	Chromatin interaction
ENSG00000149196	Chromatin interaction
ENSG00000109861	Chromatin interaction
ENSG00000137504	Chromatin interaction
ENSG00000073921	Chromatin interaction
ENSG00000150672	Chromatin interaction
ENSG00000171204	Chromatin interaction
ENSG00000199377	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10501595	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11234359	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs11604028	0.86[ASN][1000 genomes]
rs11820071	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1214001	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12417341	0.98[ASN][1000 genomes]
rs12419172	0.87[ASW][hapmap];0.89[CEU][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.81[TSI][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1354397	0.94[CHB][hapmap]
rs17148254	0.97[ASN][1000 genomes]
rs17148293	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17148306	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17208492	1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs17208519	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17810659	1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs188311	0.90[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap]
rs1892872	0.94[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs1991923	0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2162055	0.93[ASN][1000 genomes]
rs2290823	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2467059	1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs286499	0.94[CHB][hapmap]
rs290175	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs290177	1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs290178	0.89[ASN][1000 genomes]
rs290182	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs290186	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.82[LWK][hapmap];0.80[MKK][hapmap];0.93[ASN][1000 genomes]
rs290194	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs290196	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs290199	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs35097455	0.81[ASN][1000 genomes]
rs35844123	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4280023	0.85[ASN][1000 genomes]
rs4943925	1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[ASN][1000 genomes]
rs4944527	0.96[ASN][1000 genomes]
rs4944529	1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs4944531	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944532	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs497698	0.91[ASN][1000 genomes]
rs510948	0.82[JPT][hapmap]
rs537266	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs537604	0.82[JPT][hapmap]
rs55739259	0.85[ASN][1000 genomes]
rs56073783	0.87[ASN][1000 genomes]
rs56238215	0.82[ASN][1000 genomes]
rs56579	1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs56737296	0.85[ASN][1000 genomes]
rs57223077	0.87[ASN][1000 genomes]
rs573766	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs578324	0.85[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap]
rs58152312	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs583122	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs58931064	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs592712	0.82[JPT][hapmap]
rs60838923	0.90[ASN][1000 genomes]
rs609012	0.82[JPT][hapmap]
rs61133973	0.83[ASN][1000 genomes]
rs61286868	0.86[ASN][1000 genomes]
rs613973	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs650036	0.88[JPT][hapmap]
rs653559	0.88[JPT][hapmap]
rs6592252	0.94[ASN][1000 genomes]
rs6592253	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs681044	0.82[JPT][hapmap]
rs688741	0.81[CHD][hapmap];0.88[JPT][hapmap]
rs7108132	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7108137	0.87[ASN][1000 genomes]
rs7115250	0.96[ASN][1000 genomes]
rs7119617	0.80[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7939217	0.91[ASN][1000 genomes]
rs7943586	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs7948778	1.00[CHB][hapmap]
rs881121	1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs947861	1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs947862	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs947863	1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.84[MKK][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv898047	chr11:85180409-85377707	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1192	CCDC89	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85371600-85375200	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr11:85372000-85375000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:85372000-85375200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
4	chr11:85372000-85376600	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr11:85372000-85376600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:85372200-85376600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:85372200-85376800	Active TSS	NHDF-Ad	bronchial
8	chr11:85372400-85376600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:85372600-85375400	Active TSS	Right Atrium	heart
10	chr11:85372600-85376400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:85372600-85376400	Active TSS	HSMMtube	muscle
12	chr11:85372600-85376600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:85372600-85376600	Active TSS	Stomach Smooth Muscle	stomach
14	chr11:85372600-85376600	Active TSS	HMEC	breast
15	chr11:85372800-85376200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:85372800-85376400	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr11:85372800-85376400	Active TSS	Muscle Satellite Cultured Cells	--
18	chr11:85372800-85376400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr11:85372800-85376400	Active TSS	Fetal Intestine Large	intestine
20	chr11:85372800-85376400	Active TSS	Hela-S3	cervix
21	chr11:85372800-85376400	Active TSS	HSMM	muscle
22	chr11:85372800-85376600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:85372800-85376600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr11:85372800-85376800	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr11:85372800-85376800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:85372800-85376800	Active TSS	Osteobl	bone
27	chr11:85372800-85377000	Active TSS	Fetal Brain Male	brain
28	chr11:85373000-85375000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr11:85373000-85375200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:85373000-85375200	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr11:85373000-85376000	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr11:85373000-85376200	Active TSS	H9 Cell Line	embryonic stem cell
33	chr11:85373000-85376200	Active TSS	Aorta	Aorta
34	chr11:85373000-85376600	Active TSS	Ovary	ovary
35	chr11:85373000-85376600	Active TSS	Right Ventricle	heart
36	chr11:85373200-85376200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:85373200-85376400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr11:85373200-85376600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:85373200-85376600	Active TSS	Fetal Intestine Small	intestine
40	chr11:85373200-85376600	Active TSS	Fetal Stomach	stomach
41	chr11:85373200-85376600	Active TSS	Psoas Muscle	Psoas
42	chr11:85373200-85376800	Active TSS	Colonic Mucosa	Colon
43	chr11:85373400-85375000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:85373400-85375000	Transcr. at gene 5' and 3'	A549	lung
45	chr11:85373400-85376400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:85373400-85376600	Active TSS	H1 Cell Line	embryonic stem cell
47	chr11:85373400-85376600	Active TSS	Fetal Muscle Trunk	muscle
48	chr11:85373400-85376600	Active TSS	NHEK	skin
49	chr11:85373400-85377000	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr11:85373600-85376600	Active TSS	Primary T cells fromperipheralblood	blood

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