Variant report

Variant	rs7945177
Chromosome Location	chr11:64532272-64532273
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64526696-64538505	K562	blood:	n/a	n/a
2	POLR2A	chr11:64532079-64532736	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:64525013-64542071	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:64528801-64539251	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:64529075-64533137	GM12891	blood:	n/a	n/a
6	POLR2A	chr11:64527305-64538579	K562	blood:	n/a	n/a
7	POLR2A	chr11:64528860-64533465	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr11:64528964-64532627	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:64532052-64532780	K562	blood:	n/a	n/a
10	POLR2A	chr11:64525521-64533450	A549	lung:	n/a	n/a
11	POLR2A	chr11:64528977-64538125	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:64527082-64533748	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:64529607-64532341	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:64529490-64533356	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:64529491-64532624	GM12891	blood:	n/a	n/a
16	POLR2A	chr11:64527460-64534329	GM12892	blood:	n/a	n/a
17	POLR2A	chr11:64532129-64532330	HepG2	liver:	n/a	n/a
18	POLR2A	chr11:64529649-64532669	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:64526410-64533727	GM12891	blood:	n/a	n/a
20	POLR2A	chr11:64532238-64533225	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr11:64526666-64533511	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr11:64529502-64532480	HepG2	liver:	n/a	n/a
23	POLR2A	chr11:64532111-64532674	Hela-S3	cervix:	n/a	n/a
24	MTA3	chr11:64529485-64532434	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:64532132-64532775	HepG2	liver:	n/a	n/a
26	POLR2A	chr11:64529493-64533360	GM12891	blood:	n/a	n/a
27	POLR2A	chr11:64532223-64532682	K562	blood:	n/a	n/a
28	USF2	chr11:64531969-64532325	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr11:64526699-64532799	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr11:64529558-64533705	K562	blood:	n/a	n/a
31	POLR2A	chr11:64529494-64533360	GM12892	blood:	n/a	n/a
32	POLR2A	chr11:64527091-64539806	GM12892	blood:	n/a	n/a
33	POLR2A	chr11:64532163-64532720	HL-60	blood:	n/a	n/a
34	POLR2A	chr11:64529560-64533358	K562	blood:	n/a	n/a
35	POLR2A	chr11:64529570-64533197	HL-60	blood:	n/a	n/a
36	POLR2A	chr11:64532160-64533213	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64456116..64458065-chr11:64530608..64532539,2	K562	blood:
2	chr11:64529809..64532784-chr22:39706393..39708721,2	K562	blood:
3	chr11:64455760..64456313-chr11:64531872..64532506,2	MCF-7	breast:
4	chr11:64507790..64516181-chr11:64524582..64537783,30	K562	blood:

No data

Variant related genes	Relation type
PYGM	TF binding region
ENSG00000068831	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11231861	1.00[EUR][1000 genomes]
rs12292872	1.00[EUR][1000 genomes]
rs7111870	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv818842	chr11:64345448-64546391	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	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
4	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
5	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
6	nsv1051350	chr11:64372906-64533632	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	esv1804443	chr11:64386453-64534785	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv897697	chr11:64447420-64584959	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
10	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
11	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
12	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
13	nsv555202	chr11:64477050-64573589	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
14	nsv468597	chr11:64477050-64584959	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
15	nsv468598	chr11:64477050-64584959	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
16	nsv555203	chr11:64477050-64584959	Strong transcription Genic enhancers Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
17	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
18	nsv832189	chr11:64487183-64620199	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
19	nsv469962	chr11:64527080-64621573	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64525400-64533400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:64527400-64539600	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr11:64527600-64534600	Weak transcription	Fetal Brain Male	brain
4	chr11:64528000-64532600	Genic enhancers	Fetal Muscle Trunk	muscle
5	chr11:64528000-64532600	Genic enhancers	Fetal Muscle Leg	muscle
6	chr11:64528000-64536400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:64528200-64533400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:64528200-64543600	Strong transcription	Fetal Intestine Small	intestine
9	chr11:64529000-64533400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr11:64529400-64532600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:64529400-64532600	Genic enhancers	Spleen	Spleen
12	chr11:64529600-64532800	Genic enhancers	NHEK	skin
13	chr11:64529600-64533000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:64529600-64533200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:64529600-64533600	Genic enhancers	Primary hematopoietic stem cells	blood
16	chr11:64529600-64534800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:64529600-64543200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr11:64529800-64532400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr11:64529800-64532400	Genic enhancers	Fetal Kidney	kidney
20	chr11:64529800-64532600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
21	chr11:64529800-64532600	Genic enhancers	HUVEC	blood vessel
22	chr11:64529800-64532800	Genic enhancers	Duodenum Smooth Muscle	Duodenum
23	chr11:64529800-64532800	Genic enhancers	Rectal Mucosa Donor 29	rectum
24	chr11:64529800-64532800	Genic enhancers	A549	lung
25	chr11:64529800-64533000	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:64529800-64533000	Genic enhancers	Left Ventricle	heart
27	chr11:64529800-64533000	Genic enhancers	Right Ventricle	heart
28	chr11:64529800-64533200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:64529800-64533200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:64529800-64533200	Enhancers	Fetal Heart	heart
31	chr11:64529800-64533200	Genic enhancers	HMEC	breast
32	chr11:64529800-64533400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:64529800-64534000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:64529800-64536000	Genic enhancers	Fetal Thymus	thymus
35	chr11:64529800-64537800	Genic enhancers	Dnd41	blood
36	chr11:64529800-64539400	Strong transcription	Liver	Liver
37	chr11:64529800-64543200	Strong transcription	Fetal Brain Female	brain
38	chr11:64529800-64543600	Strong transcription	Fetal Lung	lung
39	chr11:64529800-64543600	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr11:64530000-64532400	Genic enhancers	NH-A	brain
41	chr11:64530000-64534200	Genic enhancers	Thymus	Thymus
42	chr11:64530000-64541200	Strong transcription	Aorta	Aorta
43	chr11:64530000-64543400	Strong transcription	Fetal Intestine Large	intestine
44	chr11:64530200-64532400	Genic enhancers	Brain Cingulate Gyrus	brain
45	chr11:64530200-64532600	Genic enhancers	NHLF	lung
46	chr11:64530200-64533200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:64530200-64533400	Genic enhancers	GM12878-XiMat	blood
48	chr11:64530200-64534600	Strong transcription	Lung	lung
49	chr11:64530200-64540200	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:64530400-64532400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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