Variant report

Variant	rs28382931
Chromosome Location	chr2:100037052-100037053
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100034976..100037189-chr2:100039712..100042775,3	K562	blood:
2	chr2:100035937..100038463-chr2:100054056..100056135,2	K562	blood:
3	chr2:100024522..100027072-chr2:100035456..100037869,2	K562	blood:

Variant related genes	Relation type
ENSG00000135945	Chromatin interaction

Extended variants
information (count: 26 )
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[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28369937	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]
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]
rs28382986	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:5 , 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	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
3	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
4	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
5	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	chr2:100006000-100046400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:100006000-100049600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr2:100006000-100050800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr2:100006000-100051000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:100006000-100081200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:100006200-100046400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr2:100006200-100051400	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:100006400-100046600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:100006600-100042600	Strong transcription	Fetal Muscle Trunk	muscle
17	chr2:100009000-100045000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr2:100009800-100050000	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:100014400-100039000	Strong transcription	Adipose Nuclei	Adipose
20	chr2:100020600-100051400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:100020800-100050200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:100021000-100051800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:100021200-100050800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:100021200-100077800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:100021400-100049200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:100021400-100050800	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:100021600-100040400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr2:100022000-100047600	Weak transcription	Stomach Mucosa	stomach
29	chr2:100022000-100050000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:100022000-100054800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:100022200-100059000	Strong transcription	Liver	Liver
32	chr2:100022400-100039200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:100023400-100037200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:100024000-100037400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:100024000-100040400	Strong transcription	Brain Anterior Caudate	brain
36	chr2:100024000-100046600	Strong transcription	Fetal Intestine Large	intestine
37	chr2:100024000-100050000	Strong transcription	HepG2	liver
38	chr2:100024400-100048400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:100024400-100051400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:100024800-100039600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:100024800-100042000	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr2:100025600-100038800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:100025800-100049000	Strong transcription	Fetal Thymus	thymus
44	chr2:100026000-100048800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:100026800-100042000	Strong transcription	Primary hematopoietic stem cells	blood
46	chr2:100027000-100040000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:100027600-100039600	Weak transcription	Right Ventricle	heart
48	chr2:100028800-100037200	Weak transcription	Colonic Mucosa	Colon
49	chr2:100029000-100045000	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:100029200-100038000	Strong transcription	Skeletal Muscle Male	skeletal muscle

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