Variant report

Variant	rs28382986
Chromosome Location	chr2:100015563-100015564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:100004697..100006240-chr2:100015135..100017156,2	K562	blood:
2	chr2:100010402..100012804-chr2:100013406..100016035,2	MCF-7	breast:
3	chr2:100014516..100016431-chr2:100024197..100026686,2	K562	blood:
4	chr2:100014826..100019014-chr2:100020376..100023136,4	K562	blood:
5	chr2:99952970..99955165-chr2:100013542..100016001,2	K562	blood:
6	chr2:100015311..100016881-chr2:100105394..100106940,2	MCF-7	breast:
7	chr2:100014765..100017229-chr2:100029923..100032596,2	K562	blood:
8	chr2:100014171..100015942-chr2:100017171..100019906,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000158417	Chromatin interaction
ENSG00000135945	Chromatin interaction
ENSG00000273306	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11123773	0.84[EUR][1000 genomes]
rs12053237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28369937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28369961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382910	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382911	1.00[ASN][1000 genomes]
rs28382914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382925	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382936	1.00[ASN][1000 genomes]
rs28382959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382974	1.00[ASN][1000 genomes]
rs28382975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28745278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3197957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41280587	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73964149	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:127 , 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	chr2:100001000-100022000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:100004800-100023000	Strong transcription	Primary B cells from cord blood	blood
4	chr2:100004800-100044800	Strong transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:100005200-100049800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:100005400-100020000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:100005600-100045400	Strong transcription	Primary T cells from cord blood	blood
8	chr2:100005800-100016600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:100005800-100019600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:100005800-100019600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:100005800-100045200	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr2:100005800-100062600	Strong transcription	Dnd41	blood
13	chr2:100005800-100066000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:100006000-100019000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:100006000-100019200	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:100006000-100019200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:100006000-100019600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:100006000-100023400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:100006000-100026200	Strong transcription	HUVEC	blood vessel
20	chr2:100006000-100034200	Strong transcription	GM12878-XiMat	blood
21	chr2:100006000-100046400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:100006000-100049600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:100006000-100050800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr2:100006000-100051000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:100006000-100081200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr2:100006200-100017800	Strong transcription	Hela-S3	cervix
27	chr2:100006200-100019000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:100006200-100019800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:100006200-100023600	Strong transcription	Fetal Thymus	thymus
30	chr2:100006200-100028600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:100006200-100046400	Strong transcription	Primary B cells from peripheral blood	blood
32	chr2:100006200-100051400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr2:100006400-100016400	Strong transcription	A549	lung
34	chr2:100006400-100019400	Strong transcription	Osteobl	bone
35	chr2:100006400-100020200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:100006400-100022600	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:100006400-100023000	Strong transcription	Primary hematopoietic stem cells	blood
38	chr2:100006400-100034200	Strong transcription	Fetal Brain Female	brain
39	chr2:100006400-100046600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:100006600-100019000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:100006600-100019400	Strong transcription	Fetal Intestine Large	intestine
42	chr2:100006600-100019600	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr2:100006600-100019600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr2:100006600-100020600	Strong transcription	Placenta	Placenta
45	chr2:100006600-100020800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:100006600-100022400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:100006600-100023000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:100006600-100023000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:100006600-100023000	Strong transcription	Thymus	Thymus
50	chr2:100006600-100023200	Strong transcription	K562	blood

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