Variant report

Variant	rs7123368
Chromosome Location	chr11:64627117-64627118
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:122)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64626957-64627878	GM12878	blood:	n/a	n/a
2	CEBPB	chr11:64626675-64627544	GM12878	blood:	n/a	n/a
3	JUND	chr11:64626882-64627451	GM12878	blood:	n/a	n/a
4	RAD21	chr11:64626967-64627311	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:64625998-64627999	GM18505	blood:	n/a	n/a
6	BHLHE40	chr11:64626867-64627430	GM12878	blood:	n/a	n/a
7	NFATC1	chr11:64626816-64627466	GM12878	blood:	n/a	n/a
8	EP300	chr11:64626933-64627358	GM12878	blood:	n/a	n/a
9	BATF	chr11:64626840-64627343	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:64626747-64627820	GM12891	blood:	n/a	n/a
11	EBF1	chr11:64625950-64627591	GM12878	blood:	n/a	n/a
12	TCF3	chr11:64626828-64627426	GM12878	blood:	n/a	n/a
13	BCLAF1	chr11:64626834-64627503	GM12878	blood:	n/a	n/a
14	PML	chr11:64625805-64627653	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:64626955-64627351	GM12891	blood:	n/a	n/a
16	POLR2A	chr11:64626918-64627646	HL-60	blood:	n/a	n/a
17	PAX5	chr11:64626808-64627494	GM12891	blood:	n/a	n/a
18	POLR2A	chr11:64626895-64627657	HL-60	blood:	n/a	n/a
19	POLR2A	chr11:64626962-64627473	GM15510	blood:	n/a	n/a
20	POLR2A	chr11:64625767-64628200	GM12892	blood:	n/a	n/a
21	CUX1	chr11:64626983-64627322	GM12878	blood:	n/a	n/a
22	EP300	chr11:64626969-64627286	GM12878	blood:	n/a	n/a
23	BCL11A	chr11:64626956-64627370	GM12878	blood:	n/a	n/a
24	ELF1	chr11:64626810-64627366	GM12878	blood:	n/a	n/a
25	TAF1	chr11:64626921-64627354	GM12878	blood:	n/a	n/a
26	CEBPB	chr11:64626937-64627334	GM12878	blood:	n/a	n/a
27	RELA	chr11:64626916-64627493	GM18505	blood:	n/a	n/a
28	RELA	chr11:64626491-64627468	GM12891	blood:	n/a	n/a
29	SPI1	chr11:64626915-64627257	GM12891	blood:	n/a	n/a
30	ELK1	chr11:64626989-64627249	GM12878	blood:	n/a	n/a
31	EP300	chr11:64626879-64627575	GM12878	blood:	n/a	n/a
32	MAX	chr11:64626969-64627646	NB4	blood:	n/a	n/a
33	RELA	chr11:64626000-64627533	GM15510	blood:	n/a	n/a
34	RUNX3	chr11:64625915-64627906	GM12878	blood:	n/a	n/a
35	ETS1	chr11:64626877-64627349	GM12878	blood:	n/a	n/a
36	SP1	chr11:64626827-64627400	GM12878	blood:	n/a	n/a
37	EBF1	chr11:64626321-64627578	GM12878	blood:	n/a	n/a
38	PAX5	chr11:64626773-64627402	GM12878	blood:	n/a	n/a
39	BCL11A	chr11:64626848-64627404	GM12878	blood:	n/a	n/a
40	PAX5	chr11:64626803-64627372	GM12878	blood:	n/a	n/a
41	YY1	chr11:64626845-64627418	GM12878	blood:	n/a	n/a
42	POU2F2	chr11:64626891-64627472	GM12878	blood:	n/a	n/a
43	POLR2A	chr11:64626842-64627899	GM12892	blood:	n/a	n/a
44	ELF1	chr11:64627084-64627957	GM12878	blood:	n/a	n/a
45	TCF12	chr11:64626936-64627291	GM12878	blood:	n/a	n/a
46	NFATC1	chr11:64626842-64627488	GM12878	blood:	n/a	n/a
47	TCF3	chr11:64626962-64627375	GM12878	blood:	n/a	n/a
48	STAT5A	chr11:64626891-64627566	GM12878	blood:	n/a	chr11:64627433-64627457
49	PML	chr11:64626894-64627306	GM12878	blood:	n/a	n/a
50	NFIC	chr11:64626426-64627486	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
EHD1	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10488702	1.00[CEU][hapmap]
rs11827610	1.00[CEU][hapmap]
rs17146407	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17146506	1.00[CEU][hapmap]
rs17146508	1.00[CEU][hapmap]
rs17146511	1.00[CEU][hapmap]
rs17146515	1.00[CEU][hapmap]
rs17146519	1.00[CEU][hapmap]
rs17146528	1.00[CEU][hapmap]
rs17146539	1.00[CEU][hapmap]
rs17146541	1.00[CEU][hapmap]
rs17146543	1.00[CEU][hapmap]
rs17146544	1.00[CEU][hapmap]
rs17146569	1.00[CEU][hapmap]
rs17146575	1.00[CEU][hapmap]
rs35079323	1.00[CEU][hapmap]
rs3867127	1.00[CEU][hapmap]
rs3888184	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3888185	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4320955	1.00[CEU][hapmap]
rs56326606	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56410527	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61458234	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs628595	1.00[CEU][hapmap]
rs7102350	1.00[CEU][hapmap]
rs7103328	1.00[CEU][hapmap]
rs7105257	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7113751	1.00[CEU][hapmap]
rs7482817	1.00[CEU][hapmap]
rs7942472	1.00[CEU][hapmap]
rs7948832	0.83[AFR][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	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	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
5	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	nsv870106	chr11:64610698-64640067	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64612600-64639000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:64613000-64629800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:64613000-64630600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:64617200-64627600	Genic enhancers	Fetal Intestine Small	intestine
5	chr11:64617200-64627600	Genic enhancers	NHLF	lung
6	chr11:64617600-64629600	Weak transcription	Fetal Brain Male	brain
7	chr11:64618600-64628000	Genic enhancers	Fetal Intestine Large	intestine
8	chr11:64618800-64627800	Strong transcription	Brain Germinal Matrix	brain
9	chr11:64618800-64627800	Strong transcription	Fetal Brain Female	brain
10	chr11:64618800-64627800	Genic enhancers	Fetal Muscle Leg	muscle
11	chr11:64619000-64627800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
12	chr11:64619000-64628200	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr11:64619200-64627800	Genic enhancers	Adipose Nuclei	Adipose
14	chr11:64619200-64628000	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:64619200-64628000	Genic enhancers	Spleen	Spleen
16	chr11:64619200-64630200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:64619800-64628000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:64619800-64628000	Genic enhancers	Right Ventricle	heart
19	chr11:64619800-64632400	Genic enhancers	Primary B cells from peripheral blood	blood
20	chr11:64620800-64627800	Genic enhancers	Esophagus	oesophagus
21	chr11:64620800-64628200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:64620800-64630200	Weak transcription	Fetal Kidney	kidney
23	chr11:64621800-64627600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr11:64621800-64627800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:64621800-64628000	Enhancers	Right Atrium	heart
26	chr11:64622800-64630400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:64623000-64628000	Genic enhancers	Placenta	Placenta
28	chr11:64623000-64630000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:64623200-64627400	Genic enhancers	HSMM	muscle
30	chr11:64623200-64629800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:64623200-64630800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:64623200-64633000	Enhancers	Primary hematopoietic stem cells	blood
33	chr11:64623400-64630600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:64624000-64627800	Genic enhancers	Brain Inferior Temporal Lobe	brain
35	chr11:64624200-64630600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr11:64624400-64627600	Strong transcription	Pancreas	Pancrea
37	chr11:64624400-64629400	Strong transcription	Fetal Stomach	stomach
38	chr11:64624600-64627200	Strong transcription	Brain Cingulate Gyrus	brain
39	chr11:64624600-64627400	Strong transcription	Brain Substantia Nigra	brain
40	chr11:64624600-64627800	Genic enhancers	Colonic Mucosa	Colon
41	chr11:64624600-64627800	Strong transcription	NHEK	skin
42	chr11:64624600-64629800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:64624800-64627600	Genic enhancers	Stomach Smooth Muscle	stomach
44	chr11:64624800-64627600	Genic enhancers	NHDF-Ad	bronchial
45	chr11:64624800-64627800	Genic enhancers	Lung	lung
46	chr11:64624800-64627800	Strong transcription	Osteobl	bone
47	chr11:64625000-64627200	Genic enhancers	HSMMtube	muscle
48	chr11:64625000-64627600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:64625000-64627600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:64625000-64627600	Strong transcription	Fetal Lung	lung

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