Variant report

Variant	rs744434
Chromosome Location	chr11:65847982-65847983
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr11:65847871-65848320	A549	lung:	n/a	n/a
2	E2F4	chr11:65847960-65848268	MCF10A-Er-Src	breast:	n/a	n/a
3	SP1	chr11:65847796-65848411	A549	lung:	n/a	n/a
4	FOSL2	chr11:65847976-65848260	HepG2	liver:	n/a	n/a
5	GTF2F1	chr11:65847969-65848216	Hela-S3	cervix:	n/a	n/a
6	EP300	chr11:65847808-65848365	A549	lung:	n/a	n/a
7	POLR2A	chr11:65847894-65848324	SK-N-SH	brain:	n/a	n/a
8	JUND	chr11:65847793-65848368	SK-N-SH	brain:	n/a	chr11:65848117-65848128
9	WRNIP1	chr11:65847901-65848005	GM12878	blood:	n/a	n/a
10	STAT3	chr11:65847956-65848293	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr11:65847949-65848295	MCF10A-Er-Src	breast:	n/a	chr11:65848117-65848128
12	FOS	chr11:65847955-65848295	MCF10A-Er-Src	breast:	n/a	chr11:65848117-65848128
13	JUND	chr11:65847951-65848312	Hela-S3	cervix:	n/a	chr11:65848117-65848128
14	SP1	chr11:65847686-65848445	A549	lung:	n/a	n/a
15	RCOR1	chr11:65847861-65848210	K562	blood:	n/a	n/a
16	FOS	chr11:65847949-65848308	MCF10A-Er-Src	breast:	n/a	chr11:65848117-65848128
17	TCF12	chr11:65847747-65848279	ECC-1	luminal epithelium:	n/a	chr11:65848227-65848234
18	CEBPB	chr11:65847951-65848384	IMR90	lung:	n/a	n/a
19	JUND	chr11:65847971-65848228	HepG2	liver:	n/a	chr11:65848117-65848128
20	PBX3	chr11:65847876-65848469	SK-N-SH	brain:	n/a	n/a
21	JUND	chr11:65847928-65848326	A549	lung:	n/a	chr11:65848117-65848128
22	ZNF384	chr11:65847934-65848120	GM12878	blood:	n/a	n/a
23	USF1	chr11:65847943-65848214	SK-N-SH_RA	brain:	n/a	n/a
24	ATF3	chr11:65847944-65848295	K562	blood:	n/a	n/a
25	FOSL1	chr11:65847881-65848363	HCT-116	colon:	n/a	n/a
26	ARID3A	chr11:65847904-65848055	K562	blood:	n/a	n/a
27	SIN3AK20	chr11:65847797-65848343	A549	lung:	n/a	n/a
28	TCF12	chr11:65847740-65848581	SK-N-SH	brain:	n/a	chr11:65848227-65848234
29	FOSL1	chr11:65847862-65848296	K562	blood:	n/a	n/a
30	TEAD4	chr11:65847861-65848344	K562	blood:	n/a	n/a
31	FOS	chr11:65847980-65848344	HUVEC	blood vessel:	n/a	chr11:65848117-65848128
32	RCOR1	chr11:65847697-65848573	IMR90	lung:	n/a	n/a
33	ZNF143	chr11:65847936-65848215	Hela-S3	cervix:	n/a	n/a
34	TCF12	chr11:65847639-65848532	A549	lung:	n/a	chr11:65848227-65848234
35	ZNF384	chr11:65847834-65848277	K562	blood:	n/a	n/a
36	EP300	chr11:65847976-65848323	SK-N-SH_RA	brain:	n/a	n/a
37	TEAD4	chr11:65847883-65848231	K562	blood:	n/a	n/a
38	FOSL2	chr11:65847932-65848350	MCF-7	breast:	n/a	n/a
39	RFX5	chr11:65847978-65848381	Hela-S3	cervix:	n/a	n/a
40	EP300	chr11:65847964-65848312	Hela-S3	cervix:	n/a	n/a
41	FOSL2	chr11:65847902-65848452	SK-N-SH	brain:	n/a	n/a
42	MAX	chr11:65847859-65848262	K562	blood:	n/a	n/a
43	CEBPB	chr11:65847919-65848522	A549	lung:	n/a	n/a
44	CEBPB	chr11:65847974-65848375	Hela-S3	cervix:	n/a	n/a
45	JUN	chr11:65847936-65848282	Hela-S3	cervix:	n/a	n/a
46	SMC3	chr11:65847967-65848274	Hela-S3	cervix:	n/a	n/a
47	EP300	chr11:65847818-65848439	A549	lung:	n/a	n/a
48	FOSL2	chr11:65847893-65848326	A549	lung:	n/a	n/a
49	FOS	chr11:65847955-65848326	MCF10A-Er-Src	breast:	n/a	chr11:65848117-65848128
50	FOSL2	chr11:65847761-65848437	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:65619884..65621814-chr11:65847924..65850674,2	K562	blood:
2	chr11:65847681..65850551-chr11:65884444..65887331,2	MCF-7	breast:
3	chr11:65847868..65850346-chr11:65885324..65888259,3	MCF-7	breast:
4	chr11:65654439..65656830-chr11:65847321..65849529,2	K562	blood:
5	chr11:65844532..65851114-chr11:65890610..65896417,9	MCF-7	breast:
6	chr11:65847293..65849412-chr11:65902242..65904368,2	MCF-7	breast:
7	chr11:65845492..65848054-chr11:65910423..65911966,2	MCF-7	breast:
8	chr11:65768443..65770913-chr11:65847683..65849504,2	MCF-7	breast:
9	chr11:65836657..65839642-chr11:65847267..65850569,3	K562	blood:
10	chr11:65846039..65848374-chr11:65888360..65890494,2	MCF-7	breast:
11	chr11:65843731..65845242-chr11:65847002..65849986,2	K562	blood:
12	chr11:65837445..65841623-chr11:65846203..65851019,6	MCF-7	breast:
13	chr11:65817703..65819765-chr11:65847200..65849726,3	MCF-7	breast:
14	chr11:65846645..65848956-chr11:65849527..65852438,2	K562	blood:
15	chr11:65840513..65843599-chr11:65845942..65848991,3	K562	blood:

No data

Variant related genes	Relation type
PACS1	TF binding region
ENSG00000255038	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175376	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10488727	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12803276	0.91[YRI][hapmap]
rs17147321	0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17147347	0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17147409	1.00[AMR][1000 genomes]
rs58107762	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58989048	0.81[AFR][1000 genomes]
rs60379964	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7935217	0.81[AFR][1000 genomes]
rs7935315	1.00[AMR][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	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65839000-65849800	Weak transcription	Psoas Muscle	Psoas
2	chr11:65839400-65848800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:65839400-65850400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:65839400-65850400	Weak transcription	Fetal Intestine Large	intestine
5	chr11:65839400-65850800	Weak transcription	Liver	Liver
6	chr11:65839400-65850800	Weak transcription	Fetal Kidney	kidney
7	chr11:65839400-65850800	Weak transcription	Right Ventricle	heart
8	chr11:65839600-65850400	Weak transcription	Brain Substantia Nigra	brain
9	chr11:65839600-65854600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:65840200-65848000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:65840200-65848200	Strong transcription	Fetal Stomach	stomach
12	chr11:65840600-65850800	Weak transcription	Brain Germinal Matrix	brain
13	chr11:65840600-65870600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:65840800-65850400	Weak transcription	Fetal Brain Male	brain
15	chr11:65840800-65850800	Weak transcription	Brain Angular Gyrus	brain
16	chr11:65842000-65849600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:65842200-65848000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr11:65842200-65848800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:65842200-65850400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:65842200-65850600	Weak transcription	Fetal Lung	lung
21	chr11:65842200-65867800	Weak transcription	Ovary	ovary
22	chr11:65842400-65851800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:65843600-65851400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:65844200-65848200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:65844600-65848200	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr11:65844600-65848600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr11:65844800-65848000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:65845200-65854400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr11:65845400-65848200	Enhancers	Primary hematopoietic stem cells	blood
30	chr11:65845600-65848000	Strong transcription	Fetal Brain Female	brain
31	chr11:65845800-65868800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:65846000-65848000	Enhancers	K562	blood
33	chr11:65846000-65848200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:65846000-65848400	Enhancers	Primary B cells from cord blood	blood
35	chr11:65846000-65848400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:65846200-65848000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:65846200-65848400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr11:65846200-65850000	Enhancers	Placenta	Placenta
39	chr11:65846200-65853600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr11:65846400-65850400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:65846800-65848000	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr11:65847200-65848000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:65847200-65848000	Genic enhancers	Primary B cells from peripheral blood	blood
44	chr11:65847200-65848000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:65847200-65848000	Enhancers	Pancreas	Pancrea
46	chr11:65847200-65848200	Enhancers	HMEC	breast
47	chr11:65847200-65848400	Enhancers	Right Atrium	heart
48	chr11:65847200-65848600	Enhancers	Fetal Thymus	thymus
49	chr11:65847200-65848600	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr11:65847200-65848800	Enhancers	Primary monocytes fromperipheralblood	blood

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