Variant report

Variant	rs656982
Chromosome Location	chr11:64656357-64656358
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	EP300	chr11:64656018-64657070	A549	lung:	n/a	n/a
2	POLR2A	chr11:64655049-64657170	K562	blood:	n/a	n/a
3	MYBL2	chr11:64656278-64657014	HepG2	liver:	n/a	n/a
4	MAFK	chr11:64656273-64656979	K562	blood:	n/a	n/a
5	KAP1	chr11:64656296-64656632	U2OS	brain:	n/a	n/a
6	PML	chr11:64656320-64656992	K562	blood:	n/a	n/a
7	USF1	chr11:64656292-64656871	A549	lung:	n/a	n/a
8	POLR2A	chr11:64656335-64656954	K562	blood:	n/a	n/a
9	MAX	chr11:64655244-64657050	A549	lung:	n/a	n/a
10	SP1	chr11:64656329-64656836	K562	blood:	n/a	n/a
11	SMC3	chr11:64656357-64656756	K562	blood:	n/a	n/a
12	FOSL1	chr11:64656323-64656808	K562	blood:	n/a	n/a
13	POLR2A	chr11:64655262-64657007	A549	lung:	n/a	n/a
14	STAT5A	chr11:64656186-64656955	K562	blood:	n/a	n/a
15	MYC	chr11:64656323-64656937	K562	blood:	n/a	n/a
16	ATF3	chr11:64656274-64656852	A549	lung:	n/a	n/a
17	GATA2	chr11:64656301-64656852	K562	blood:	n/a	n/a
18	POLR2A	chr11:64655276-64657056	HepG2	liver:	n/a	n/a
19	TBL1XR1	chr11:64656246-64656989	K562	blood:	n/a	n/a
20	CBX3	chr11:64656207-64657074	K562	blood:	n/a	n/a
21	REST	chr11:64656125-64657169	A549	lung:	n/a	chr11:64656273-64656281
22	HNF4G	chr11:64656197-64656735	HepG2	liver:	n/a	chr11:64656466-64656481 chr11:64656247-64656269 chr11:64656466-64656484 chr11:64656468-64656483 chr11:64656468-64656483 chr11:64656252-64656264 chr11:64656476-64656484
23	NR3C1	chr11:64656119-64656837	A549	lung:	n/a	n/a
24	FOXA2	chr11:64656229-64656924	A549	lung:	n/a	n/a
25	ZBTB7A	chr11:64656163-64656902	K562	blood:	n/a	n/a
26	POLR2A	chr11:64656112-64657024	HepG2	liver:	n/a	n/a
27	CTCF	chr11:64654711-64657150	A549	lung:	n/a	chr11:64655526-64655544 chr11:64655532-64655541 chr11:64654864-64654873 chr11:64655528-64655541 chr11:64655529-64655539 chr11:64655528-64655541 chr11:64655521-64655542 chr11:64655305-64655314 chr11:64655527-64655543
28	YY1	chr11:64656322-64656694	A549	lung:	n/a	n/a
29	MAX	chr11:64656137-64657037	K562	blood:	n/a	n/a
30	FOSL2	chr11:64656094-64656810	HepG2	liver:	n/a	chr11:64656123-64656132 chr11:64656118-64656127
31	CUX1	chr11:64656333-64656999	K562	blood:	n/a	n/a
32	POLR2A	chr11:64656243-64657003	HepG2	liver:	n/a	n/a
33	POLR2A	chr11:64655234-64662268	HepG2	liver:	n/a	n/a
34	YY1	chr11:64656329-64656969	K562	blood:	n/a	n/a
35	NR3C1	chr11:64656205-64656986	A549	lung:	n/a	n/a
36	POLR2A	chr11:64656113-64656590	HepG2	liver:	n/a	n/a
37	ZKSCAN1	chr11:64656340-64656693	Hela-S3	cervix:	n/a	n/a
38	EP300	chr11:64656100-64656942	A549	lung:	n/a	n/a
39	GABPA	chr11:64656340-64656750	K562	blood:	n/a	n/a
40	GATA1	chr11:64656224-64657090	PBDE	blood:	n/a	n/a
41	MXI1	chr11:64656311-64656625	HepG2	liver:	n/a	n/a
42	FOSL2	chr11:64656226-64656962	A549	lung:	n/a	n/a
43	TEAD4	chr11:64656152-64657186	K562	blood:	n/a	n/a
44	GABPA	chr11:64656248-64656709	A549	lung:	n/a	n/a
45	REST	chr11:64656191-64656667	A549	lung:	n/a	chr11:64656273-64656281
46	CCNT2	chr11:64656300-64657006	K562	blood:	n/a	n/a
47	JUN	chr11:64656351-64656884	K562	blood:	n/a	n/a
48	SIN3AK20	chr11:64656276-64656992	A549	lung:	n/a	n/a
49	PML	chr11:64656265-64657034	K562	blood:	n/a	n/a
50	JUND	chr11:64656153-64656876	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64655003..64657032-chr11:65265226..65266978,2	K562	blood:
2	chr11:64651561..64659485-chr11:64681552..64686807,18	K562	blood:
3	chr11:64512574..64514468-chr11:64655571..64658129,2	K562	blood:
4	chr11:64542629..64545284-chr11:64654833..64657442,2	MCF-7	breast:
5	chr11:64645721..64646511-chr11:64656023..64656590,2	K562	blood:
6	chr11:64654999..64656996-chr11:64793791..64795632,2	K562	blood:
7	chr11:64654051..64656585-chr11:65027295..65030024,2	K562	blood:
8	chr11:64575458..64578440-chr11:64655373..64657012,2	MCF-7	breast:
9	chr11:64655612..64657117-chr11:64662574..64665430,2	MCF-7	breast:
10	chr11:64534108..64536503-chr11:64654946..64656534,2	K562	blood:

Variant related genes	Relation type
EHD1	TF binding region
ENSG00000251562	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000270775	Chromatin interaction
ENSG00000110025	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000133895	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000110046	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10897533	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1211284	0.89[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12573	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs12801172	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17146413	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2007521	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2077026	0.96[ASN][1000 genomes]
rs3741391	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3893108	0.89[ASN][1000 genomes]
rs3936999	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs3937000	0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs41381745	0.93[ASN][1000 genomes]
rs4930280	0.88[ASN][1000 genomes]
rs4930281	0.89[ASN][1000 genomes]
rs4930685	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57851864	0.94[ASN][1000 genomes]
rs589556	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs602347	0.89[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs607569	0.89[ASN][1000 genomes]
rs620066	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs621608	0.96[ASN][1000 genomes]
rs622611	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs635722	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs641623	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs649208	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs653225	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs654580	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7126744	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7926812	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7927560	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7943238	0.83[ASN][1000 genomes]
rs7944276	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7949887	0.81[CHB][hapmap];0.84[ASN][1000 genomes]
rs7952306	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7952567	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
2	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
4	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
5	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
6	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
7	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
8	nsv897708	chr11:64602757-64695271	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
9	nsv360	chr11:64632395-64659636	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1003 gene(s)	inside rSNPs	diseases
10	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
11	nsv555208	chr11:64645119-64771179	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1029 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs656982	EHD1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64651600-64658600	Enhancers	Placenta	Placenta
2	chr11:64652200-64656400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:64652800-64659800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:64654600-64657000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr11:64654800-64656400	Enhancers	Fetal Thymus	thymus
6	chr11:64654800-64656400	Enhancers	GM12878-XiMat	blood
7	chr11:64654800-64656600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr11:64654800-64656800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:64654800-64657000	Flanking Active TSS	K562	blood
10	chr11:64655000-64656400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:64655000-64656600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:64655000-64656800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:64655000-64656800	Enhancers	NHEK	skin
14	chr11:64655000-64657000	Enhancers	Spleen	Spleen
15	chr11:64655000-64657000	Flanking Active TSS	HepG2	liver
16	chr11:64655000-64657200	Flanking Active TSS	A549	lung
17	chr11:64655000-64658200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:64655200-64656800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:64655200-64656800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr11:64655200-64657000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:64655200-64657000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:64655200-64657000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:64655200-64658200	Active TSS	Rectal Smooth Muscle	rectum
24	chr11:64655200-64658600	Enhancers	Pancreas	Pancrea
25	chr11:64655400-64656600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:64655400-64656800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr11:64655400-64657000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:64655600-64656400	Active TSS	Fetal Kidney	kidney
29	chr11:64655600-64656600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:64655600-64656600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:64655600-64657200	Enhancers	Gastric	stomach
32	chr11:64655800-64656400	Enhancers	Primary T cells fromperipheralblood	blood
33	chr11:64655800-64656400	Enhancers	Fetal Muscle Leg	muscle
34	chr11:64655800-64656400	Enhancers	Fetal Stomach	stomach
35	chr11:64655800-64656600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr11:64655800-64656600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr11:64655800-64656600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:64655800-64656600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:64655800-64656800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr11:64655800-64657000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:64655800-64657200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:64655800-64657600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:64655800-64658400	Enhancers	Liver	Liver
44	chr11:64655800-64660800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr11:64655800-64663200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:64655800-64664600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:64655800-64672800	Weak transcription	Psoas Muscle	Psoas
48	chr11:64656000-64656400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:64656000-64656400	Weak transcription	Fetal Heart	heart
50	chr11:64656000-64656400	Enhancers	Skeletal Muscle Female	skeletal muscle

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