Variant report

Variant	rs73551493
Chromosome Location	chr11:107800368-107800369
allele	A/C
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	RFX5	chr11:107798384-107801101	SK-N-SH	brain:	n/a	n/a
2	REST	chr11:107799076-107800371	PANC-1	pancreas:	n/a	chr11:107799227-107799236
3	CTCF	chr11:107800280-107800430	Caco-2	colon:	n/a	n/a
4	RELA	chr11:107800092-107800991	GM12878	blood:	n/a	n/a
5	RELA	chr11:107800314-107800901	GM19193	blood:	n/a	n/a
6	MTA3	chr11:107799088-107800695	GM12878	blood:	n/a	n/a
7	REST	chr11:107798960-107800450	PANC-1	pancreas:	n/a	chr11:107799227-107799236
8	MXI1	chr11:107798484-107801292	SK-N-SH	brain:	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]
rs73551431	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:61 , 50 per page) page: 1 2

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	chr11:107798400-107800600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr11:107798400-107800600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr11:107798400-107800600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr11:107798400-107800800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr11:107798400-107800800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:107798400-107801000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:107798400-107801000	Active TSS	Brain Anterior Caudate	brain
10	chr11:107798400-107801200	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr11:107798600-107800400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:107798600-107800400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:107798600-107800400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
14	chr11:107798600-107800600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:107798600-107800600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:107798600-107800800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:107798600-107801000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr11:107798600-107801000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr11:107798600-107801000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:107798600-107801000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr11:107798600-107801400	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr11:107798800-107800600	Active TSS	Fetal Brain Male	brain
23	chr11:107798800-107800800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:107798800-107801000	Active TSS	H1 Cell Line	embryonic stem cell
25	chr11:107799000-107800600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
26	chr11:107799600-107800400	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr11:107799800-107800400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
28	chr11:107799800-107800400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
29	chr11:107799800-107800400	Bivalent/Poised TSS	A549	lung
30	chr11:107799800-107800600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr11:107799800-107800800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr11:107799800-107800800	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr11:107799800-107800800	Flanking Active TSS	Fetal Brain Female	brain
34	chr11:107799800-107800800	Flanking Active TSS	GM12878-XiMat	blood
35	chr11:107799800-107801000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr11:107800000-107800400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
37	chr11:107800000-107800400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
38	chr11:107800000-107800400	Bivalent/Poised TSS	Liver	Liver
39	chr11:107800000-107800600	Flanking Active TSS	Placenta	Placenta
40	chr11:107800000-107800600	Enhancers	Placenta Amnion	Placenta Amnion
41	chr11:107800000-107800800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:107800000-107800800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
43	chr11:107800000-107800800	Bivalent/Poised TSS	Fetal Kidney	kidney
44	chr11:107800000-107800800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
45	chr11:107800000-107801000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:107800200-107800400	Bivalent Enhancer	Brain Substantia Nigra	brain
47	chr11:107800200-107800400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
48	chr11:107800200-107800400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
49	chr11:107800200-107800400	Active TSS	Right Atrium	heart
50	chr11:107800200-107800400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach

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