Variant report

Variant	rs561451263
Chromosome Location	chr2:183649032-183649033
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	RAD21	chr2:183648901-183650542	SK-N-SH	brain:	n/a	chr2:183649613-183649625 chr2:183649608-183649627
2	CTCF	chr2:183648940-183649090	AG09319	gingival:	n/a	n/a
3	POLR2A	chr2:183649015-183650385	K562	blood:	n/a	n/a
4	CTCF	chr2:183648920-183649070	GM12869	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183648162..183650730-chr2:183663988..183666770,2	K562	blood:
2	chr2:183648396..183651176-chr2:183657370..183660801,3	K562	blood:

Variant related genes	Relation type
RPL31P15	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2756954	chr2:183528670-183764930	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv875483	chr2:183537399-183657867	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv3693445	chr2:183542825-183725221	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1004531	chr2:183648083-183698793	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv536070	chr2:183648083-183698793	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183581800-183655600	Weak transcription	Pancreas	Pancrea
2	chr2:183623200-183651400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:183625000-183650600	Weak transcription	Stomach Mucosa	stomach
4	chr2:183627200-183652600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:183627200-183657800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:183627400-183652400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr2:183631000-183652800	Weak transcription	NHLF	lung
8	chr2:183631600-183653400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:183633800-183652800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:183633800-183657800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:183638000-183652400	Weak transcription	Brain Anterior Caudate	brain
12	chr2:183639800-183653400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:183639800-183654600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:183641200-183652400	Weak transcription	Brain Germinal Matrix	brain
15	chr2:183641400-183649800	Weak transcription	Fetal Brain Female	brain
16	chr2:183643800-183649400	Weak transcription	Fetal Lung	lung
17	chr2:183643800-183656600	Weak transcription	HUVEC	blood vessel
18	chr2:183644200-183652800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:183645200-183657800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:183645400-183654200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:183645400-183655000	Weak transcription	Fetal Intestine Small	intestine
22	chr2:183645600-183652600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:183645600-183657200	Weak transcription	Adipose Nuclei	Adipose
24	chr2:183645800-183650400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr2:183645800-183652200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:183645800-183652600	Weak transcription	Fetal Intestine Large	intestine
27	chr2:183645800-183652800	Weak transcription	A549	lung
28	chr2:183645800-183653800	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:183645800-183655000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:183645800-183657200	Weak transcription	NHEK	skin
31	chr2:183645800-183657800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:183646000-183649600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr2:183646000-183653400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:183646000-183653600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:183646000-183653800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:183646000-183654400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:183646000-183658800	Weak transcription	Left Ventricle	heart
38	chr2:183646000-183659400	Weak transcription	Aorta	Aorta
39	chr2:183646200-183652000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:183646200-183653200	Weak transcription	Primary B cells from cord blood	blood
41	chr2:183646200-183654400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:183646200-183657200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:183646200-183657800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:183646400-183649600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:183648200-183649400	Weak transcription	K562	blood
46	chr2:183648800-183650000	Enhancers	Liver	Liver
47	chr2:183649000-183650000	Enhancers	Skeletal Muscle Male	skeletal muscle

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