Variant report

Variant	rs73551431
Chromosome Location	chr11:107799645-107799646
allele	C/G
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	CHD2	chr11:107798702-107800013	GM12878	blood:	n/a	chr11:107799086-107799096
2	SIN3AK20	chr11:107798928-107799846	PANC-1	pancreas:	n/a	n/a
3	REST	chr11:107798853-107800210	PFSK-1	brain:	n/a	chr11:107799227-107799236
4	MAX	chr11:107798683-107800154	GM12878	blood:	n/a	chr11:107799282-107799293 chr11:107799062-107799072
5	REST	chr11:107798833-107799699	K562	blood:	n/a	chr11:107799227-107799236
6	BHLHE40	chr11:107798777-107799898	GM12878	blood:	n/a	chr11:107799283-107799292 chr11:107799281-107799294 chr11:107799283-107799292 chr11:107799162-107799178 chr11:107799165-107799181 chr11:107799079-107799095 chr11:107799282-107799291
7	REST	chr11:107798923-107799679	MCF-7	breast:	n/a	chr11:107799227-107799236
8	RUNX3	chr11:107799533-107800309	GM12878	blood:	n/a	n/a
9	YY1	chr11:107799544-107800136	GM12878	blood:	n/a	chr11:107799550-107799559 chr11:107799547-107799556 chr11:107799788-107799797
10	REST	chr11:107799023-107799671	K562	blood:	n/a	chr11:107799227-107799236
11	MXI1	chr11:107798778-107799738	GM12878	blood:	n/a	n/a
12	JUN	chr11:107799597-107799660	H1-hESC	embryonic stem cell:	n/a	n/a
13	REST	chr11:107798901-107799982	A549	lung:	n/a	chr11:107799227-107799236
14	REST	chr11:107798818-107799752	U87	brain:	n/a	chr11:107799227-107799236
15	REST	chr11:107798797-107800006	HL-60	blood:	n/a	chr11:107799227-107799236
16	REST	chr11:107798705-107800229	HL-60	blood:	n/a	chr11:107799227-107799236
17	CHD2	chr11:107799600-107799970	H1-hESC	embryonic stem cell:	n/a	n/a
18	YY1	chr11:107799528-107799870	H1-hESC	embryonic stem cell:	n/a	chr11:107799550-107799559 chr11:107799547-107799556 chr11:107799788-107799797
19	MXI1	chr11:107798955-107799790	IMR90	lung:	n/a	n/a
20	TCF12	chr11:107798947-107799691	ECC-1	luminal epithelium:	n/a	chr11:107799055-107799065
21	REST	chr11:107798976-107799801	H1-hESC	embryonic stem cell:	n/a	chr11:107799227-107799236
22	RFX5	chr11:107798384-107801101	SK-N-SH	brain:	n/a	n/a
23	MAX	chr11:107798964-107799661	ECC-1	luminal epithelium:	n/a	chr11:107799282-107799293 chr11:107799062-107799072
24	JUND	chr11:107799641-107800306	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr11:107798725-107799929	A549	lung:	n/a	chr11:107799282-107799293 chr11:107799062-107799072
26	REST	chr11:107798919-107799810	GM12878	blood:	n/a	chr11:107799227-107799236
27	POLR2A	chr11:107799533-107799729	H1-hESC	embryonic stem cell:	n/a	n/a
28	SPI1	chr11:107799565-107799905	HL-60	blood:	n/a	n/a
29	POLR2A	chr11:107799075-107799961	PFSK-1	brain:	n/a	n/a
30	SPI1	chr11:107799591-107799736	GM12878	blood:	n/a	n/a
31	EBF1	chr11:107799524-107799850	GM12878	blood:	n/a	chr11:107799528-107799537
32	MAX	chr11:107799014-107799865	H1-hESC	embryonic stem cell:	n/a	chr11:107799282-107799293 chr11:107799062-107799072
33	RCOR1	chr11:107798657-107799736	GM12878	blood:	n/a	n/a
34	RAD21	chr11:107799510-107799718	H1-hESC	embryonic stem cell:	n/a	n/a
35	REST	chr11:107799070-107799919	SK-N-SH	brain:	n/a	chr11:107799227-107799236
36	SPI1	chr11:107799182-107799841	GM12878	blood:	n/a	n/a
37	TBP	chr11:107798730-107800158	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr11:107798679-107799841	GM18951	blood:	n/a	n/a
39	GTF2F1	chr11:107799217-107799829	H1-hESC	embryonic stem cell:	n/a	n/a
40	REST	chr11:107799076-107800371	PANC-1	pancreas:	n/a	chr11:107799227-107799236
41	REST	chr11:107798929-107799766	ECC-1	luminal epithelium:	n/a	chr11:107799227-107799236
42	REST	chr11:107798774-107799979	H1-neurons	neurons:	n/a	chr11:107799227-107799236
43	YY1	chr11:107799464-107800183	H1-hESC	embryonic stem cell:	n/a	chr11:107799550-107799559 chr11:107799547-107799556 chr11:107799788-107799797
44	SPI1	chr11:107799452-107799820	GM12891	blood:	n/a	n/a
45	REST	chr11:107798982-107799657	U87	brain:	n/a	chr11:107799227-107799236
46	MAZ	chr11:107798643-107799815	GM12878	blood:	n/a	chr11:107799282-107799293 chr11:107799062-107799072
47	POLR2A	chr11:107799023-107800277	H1-hESC	embryonic stem cell:	n/a	n/a
48	REST	chr11:107798949-107799672	MCF-7	breast:	n/a	chr11:107799227-107799236
49	E2F6	chr11:107798853-107799840	K562	blood:	n/a	chr11:107799088-107799097 chr11:107799724-107799731 chr11:107798896-107798905 chr11:107799721-107799738 chr11:107799724-107799735 chr11:107799762-107799769 chr11:107799724-107799735 chr11:107799724-107799735 chr11:107799762-107799769 chr11:107799724-107799735 chr11:107799231-107799243 chr11:107798961-107798973 chr11:107799124-107799134 chr11:107799547-107799556 chr11:107799762-107799769 chr11:107799721-107799738 chr11:107799724-107799735 chr11:107799595-107799604
50	POLR2A	chr11:107799568-107800215	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SLC35F2	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs2509492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58295671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58690713	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548894	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548901	1.00[AFR][1000 genomes]
rs73551404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551500	1.00[AMR][1000 genomes]
rs73553018	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73553021	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73553024	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73553027	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73553029	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73553031	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73553033	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73559271	1.00[AMR][1000 genomes]
rs7931198	1.00[AMR][1000 genomes]
rs7932328	1.00[AMR][1000 genomes]
rs7944235	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1039425	chr11:107468681-107895836	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv427899	chr11:107471544-107805894	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1049524	chr11:107540937-107954011	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1038581	chr11:107564274-107838386	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv898378	chr11:107580985-107847983	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv521771	chr11:107590335-107904646	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv1048938	chr11:107604473-107929950	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
9	esv2750980	chr11:107720941-107970986	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv1043139	chr11:107725297-107869216	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv898381	chr11:107729106-107847983	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv898382	chr11:107733335-107847983	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv1047984	chr11:107794729-107950746	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr11:107798200-107800400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr11:107798200-107800800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:107798400-107799800	Active TSS	Brain Angular Gyrus	brain
4	chr11:107798400-107799800	Active TSS	Brain Hippocampus Middle	brain
5	chr11:107798400-107799800	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr11:107798400-107799800	Active TSS	Fetal Brain Female	brain
7	chr11:107798400-107799800	Active TSS	Rectal Smooth Muscle	rectum
8	chr11:107798400-107800000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:107798400-107800000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:107798400-107800600	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr11:107798400-107800600	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr11:107798400-107800600	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr11:107798400-107800800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr11:107798400-107800800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:107798400-107801000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:107798400-107801000	Active TSS	Brain Anterior Caudate	brain
17	chr11:107798400-107801200	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr11:107798600-107799800	Active TSS	Brain Substantia Nigra	brain
19	chr11:107798600-107799800	Active TSS	A549	lung
20	chr11:107798600-107799800	Active TSS	GM12878-XiMat	blood
21	chr11:107798600-107799800	Active TSS	HSMM	muscle
22	chr11:107798600-107800000	Enhancers	Fetal Heart	heart
23	chr11:107798600-107800000	Active TSS	Fetal Kidney	kidney
24	chr11:107798600-107800000	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr11:107798600-107800400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:107798600-107800400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:107798600-107800400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
28	chr11:107798600-107800600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:107798600-107800600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:107798600-107800800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:107798600-107801000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr11:107798600-107801000	Active TSS	H9 Cell Line	embryonic stem cell
33	chr11:107798600-107801000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:107798600-107801000	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr11:107798600-107801400	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr11:107798800-107799800	Active TSS	Primary monocytes fromperipheralblood	blood
37	chr11:107798800-107799800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:107798800-107799800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:107798800-107799800	Active TSS	Monocytes-CD14+_RO01746	blood
40	chr11:107798800-107800200	Bivalent/Poised TSS	Thymus	Thymus
41	chr11:107798800-107800600	Active TSS	Fetal Brain Male	brain
42	chr11:107798800-107800800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:107798800-107801000	Active TSS	H1 Cell Line	embryonic stem cell
44	chr11:107799000-107799800	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
45	chr11:107799000-107799800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr11:107799000-107800000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:107799000-107800600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
48	chr11:107799200-107799800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:107799200-107799800	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr11:107799200-107799800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood

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