Variant report

Variant	rs531810573
Chromosome Location	chr2:148741405-148741406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:148736461..148738004-chr2:148741042..148743532,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1009602	chr2:148668195-148844240	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv535967	chr2:148668195-148844240	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1000246	chr2:148669162-148780280	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv535968	chr2:148669162-148780280	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv1002358	chr2:148703807-148942372	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1004169	chr2:148705700-148811850	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv535970	chr2:148705700-148811850	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1007683	chr2:148717347-148942372	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv535971	chr2:148717347-148942372	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv869326	chr2:148727068-148859804	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv817366	chr2:148727068-148879681	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1000852	chr2:148730825-148934986	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv535972	chr2:148730825-148934986	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv1009807	chr2:148731025-148829378	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv535973	chr2:148731025-148829378	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv1009696	chr2:148739650-148805668	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv535974	chr2:148739650-148805668	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv1011381	chr2:148739850-148805529	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv535975	chr2:148739850-148805529	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv999777	chr2:148740742-148809464	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148637200-148752600	Weak transcription	Small Intestine	intestine
2	chr2:148658800-148741600	Weak transcription	Aorta	Aorta
3	chr2:148694200-148777400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:148695000-148746800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:148709200-148747600	Weak transcription	Adipose Nuclei	Adipose
6	chr2:148709400-148776800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:148709800-148747000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:148721400-148752800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:148721400-148763600	Weak transcription	Spleen	Spleen
10	chr2:148722800-148756400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:148725600-148747600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:148726400-148752600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:148726600-148746800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:148726600-148752600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:148728200-148773400	Weak transcription	K562	blood
16	chr2:148730800-148742000	Weak transcription	Placenta	Placenta
17	chr2:148730800-148752600	Weak transcription	Primary T cells from cord blood	blood
18	chr2:148731000-148746200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:148731000-148746600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:148731000-148746800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:148731200-148746400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:148731400-148752800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:148736000-148742000	Weak transcription	Psoas Muscle	Psoas
24	chr2:148736000-148776800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:148736200-148743200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:148736200-148743400	Weak transcription	Fetal Intestine Large	intestine
27	chr2:148736200-148744000	Weak transcription	Liver	Liver
28	chr2:148736200-148747000	Weak transcription	Left Ventricle	heart
29	chr2:148736200-148752000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:148736200-148752400	Weak transcription	Fetal Intestine Small	intestine
31	chr2:148736200-148752600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:148736200-148752800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:148736400-148743600	Weak transcription	HepG2	liver
34	chr2:148736400-148744000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr2:148736400-148747600	Weak transcription	Fetal Kidney	kidney
36	chr2:148736400-148750200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:148736400-148750400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:148736400-148750600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:148736400-148765600	Weak transcription	A549	lung
40	chr2:148736600-148744000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr2:148736600-148752600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr2:148736600-148752600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:148737000-148753200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr2:148737600-148747600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:148737600-148747800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:148737600-148752600	Weak transcription	Primary B cells from cord blood	blood
47	chr2:148737600-148752600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr2:148738400-148742200	Weak transcription	HMEC	breast
49	chr2:148739000-148750400	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:148739000-148752600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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