Variant report

Variant	rs3087396
Chromosome Location	chr2:100022421-100022422
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr2:100021759-100023003	K562	blood:	n/a	n/a
2	POLR2A	chr2:100022362-100022502	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr2:100017635-100023110	K562	blood:	n/a	n/a
4	POLR2A	chr2:100022343-100022508	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr2:100019759-100022575	A549	lung:	n/a	n/a
6	POLR2A	chr2:100018326-100023156	K562	blood:	n/a	n/a
7	POLR2A	chr2:100021581-100022580	K562	blood:	n/a	n/a
8	POLR2A	chr2:100018189-100023050	GM12878	blood:	n/a	n/a
9	POLR2A	chr2:100019578-100022515	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:100020492-100022531	K562	blood:	n/a	n/a
11	POLR2A	chr2:100018281-100023537	GM12891	blood:	n/a	n/a
12	POLR2A	chr2:100022352-100022598	K562	blood:	n/a	n/a
13	POLR2A	chr2:100020485-100023490	GM12878	blood:	n/a	n/a
14	POLR2A	chr2:100010038-100028424	K562	blood:	n/a	n/a
15	POLR2A	chr2:100020451-100022641	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr2:100019568-100023005	HepG2	liver:	n/a	n/a
17	POLR2A	chr2:100011558-100023544	K562	blood:	n/a	n/a
18	POLR2A	chr2:100022314-100022547	HepG2	liver:	n/a	n/a
19	POLR2A	chr2:100018257-100023444	K562	blood:	n/a	n/a
20	POLR2A	chr2:100017908-100023255	K562	blood:	n/a	n/a
21	POLR2A	chr2:100018308-100023042	HepG2	liver:	n/a	n/a
22	POLR2A	chr2:100017668-100024580	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr2:100022359-100022562	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr2:100020879-100022655	HL-60	blood:	n/a	n/a
25	POLR2A	chr2:100021581-100022564	PANC-1	pancreas:	n/a	n/a
26	POLR2A	chr2:100022347-100022486	GM12878	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100020586..100023216-chr2:100029196..100032155,3	MCF-7	breast:

No data

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

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

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

rs_ID	r²[population]
rs2707634	1.00[CHB][hapmap]
rs28382941	1.00[MEX][hapmap]
rs28382942	1.00[MEX][hapmap]
rs28382960	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs28382961	1.00[CHB][hapmap]
rs3087401	1.00[CHB][hapmap]
rs3205290	1.00[CHB][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	chr2:100004800-100023000	Strong transcription	Primary B cells from cord blood	blood
3	chr2:100004800-100044800	Strong transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:100005200-100049800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:100005600-100045400	Strong transcription	Primary T cells from cord blood	blood
6	chr2:100005800-100045200	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr2:100005800-100062600	Strong transcription	Dnd41	blood
8	chr2:100005800-100066000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:100006000-100023400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:100006000-100026200	Strong transcription	HUVEC	blood vessel
11	chr2:100006000-100034200	Strong transcription	GM12878-XiMat	blood
12	chr2:100006000-100046400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:100006000-100049600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr2:100006000-100050800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr2:100006000-100051000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:100006000-100081200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr2:100006200-100023600	Strong transcription	Fetal Thymus	thymus
18	chr2:100006200-100028600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:100006200-100046400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:100006200-100051400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:100006400-100022600	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:100006400-100023000	Strong transcription	Primary hematopoietic stem cells	blood
23	chr2:100006400-100034200	Strong transcription	Fetal Brain Female	brain
24	chr2:100006400-100046600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:100006600-100023000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:100006600-100023000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:100006600-100023000	Strong transcription	Thymus	Thymus
28	chr2:100006600-100023200	Strong transcription	K562	blood
29	chr2:100006600-100024000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:100006600-100024000	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:100006600-100042600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr2:100006800-100023200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:100006800-100024000	Strong transcription	Fetal Muscle Leg	muscle
34	chr2:100007000-100022600	Strong transcription	Brain Germinal Matrix	brain
35	chr2:100007000-100035400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:100007200-100026000	Strong transcription	HMEC	breast
37	chr2:100009000-100045000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr2:100009400-100023000	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr2:100009400-100034200	Strong transcription	Stomach Smooth Muscle	stomach
40	chr2:100009800-100050000	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:100010000-100023600	Strong transcription	Colon Smooth Muscle	Colon
42	chr2:100010800-100023000	Strong transcription	Lung	lung
43	chr2:100013800-100025800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:100014200-100023200	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:100014400-100039000	Strong transcription	Adipose Nuclei	Adipose
46	chr2:100014600-100023200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:100015600-100023200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:100015600-100035400	Strong transcription	HSMM	muscle
49	chr2:100016000-100023000	Strong transcription	HSMMtube	muscle
50	chr2:100016600-100023200	Strong transcription	Brain Anterior Caudate	brain

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