Variant report

Variant	rs28382941
Chromosome Location	chr2:100029267-100029268
allele	A/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	POLR2A	chr2:100028770-100033617	K562	blood:	n/a	n/a
2	POLR2A	chr2:100028947-100029467	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:100029203-100029495	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100027414..100029363-chr2:100031550..100033221,2	K562	blood:
2	chr2:100020586..100023216-chr2:100029196..100032155,3	MCF-7	breast:

Variant related genes	Relation type
REV1	TF binding region
ENSG00000135945	Chromatin interaction
ENSG00000273306	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2707633	1.00[LWK][hapmap]
rs2707634	1.00[LWK][hapmap]
rs28382942	1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap]
rs28382960	1.00[LWK][hapmap];1.00[MEX][hapmap]
rs28382961	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap]
rs3087396	1.00[MEX][hapmap]
rs3205290	1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv524466	chr2:99952086-100031551	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1014604	chr2:99980851-100097884	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1006625	chr2:99984550-100096371	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1014161	chr2:100021040-100063406	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99999400-100056800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:100004800-100044800	Strong transcription	Primary T helper cells PMA-I stimulated	--
3	chr2:100005200-100049800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:100005600-100045400	Strong transcription	Primary T cells from cord blood	blood
5	chr2:100005800-100045200	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr2:100005800-100062600	Strong transcription	Dnd41	blood
7	chr2:100005800-100066000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:100006000-100034200	Strong transcription	GM12878-XiMat	blood
9	chr2:100006000-100046400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:100006000-100049600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:100006000-100050800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr2:100006000-100051000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:100006000-100081200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:100006200-100046400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr2:100006200-100051400	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:100006400-100034200	Strong transcription	Fetal Brain Female	brain
17	chr2:100006400-100046600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:100006600-100042600	Strong transcription	Fetal Muscle Trunk	muscle
19	chr2:100007000-100035400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:100009000-100045000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr2:100009400-100034200	Strong transcription	Stomach Smooth Muscle	stomach
22	chr2:100009800-100050000	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:100014400-100039000	Strong transcription	Adipose Nuclei	Adipose
24	chr2:100015600-100035400	Strong transcription	HSMM	muscle
25	chr2:100019200-100031200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:100020600-100051400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:100020800-100050200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:100021000-100051800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:100021200-100050800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:100021200-100077800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:100021400-100049200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:100021400-100050800	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:100021600-100040400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr2:100022000-100030200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:100022000-100036600	Strong transcription	Placenta	Placenta
36	chr2:100022000-100047600	Weak transcription	Stomach Mucosa	stomach
37	chr2:100022000-100050000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:100022000-100054800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:100022200-100031600	Weak transcription	Gastric	stomach
40	chr2:100022200-100034800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:100022200-100059000	Strong transcription	Liver	Liver
42	chr2:100022400-100033800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:100022400-100039200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:100022600-100030200	Weak transcription	Brain Germinal Matrix	brain
45	chr2:100023000-100029800	Weak transcription	Aorta	Aorta
46	chr2:100023000-100030000	Weak transcription	Fetal Heart	heart
47	chr2:100023000-100030200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr2:100023000-100033600	Weak transcription	Pancreas	Pancrea
49	chr2:100023200-100032000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:100023400-100037200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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