Variant report

Variant	rs3197957
Chromosome Location	chr2:100010810-100010811
allele	C/T
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	chr2:100010547-100011050	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr2:100010038-100028424	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:100010012..100012925-chr2:100019306..100020928,2	K562	blood:
2	chr2:100008715..100012637-chr2:100019428..100022260,4	K562	blood:
3	chr2:100010402..100012804-chr2:100013406..100016035,2	MCF-7	breast:

Variant related genes	Relation type
EIF5B	TF binding region
ENSG00000135945	Chromatin interaction
ENSG00000273306	Chromatin interaction
ENSG00000158417	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[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]
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]
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]
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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99978200-100011800	Weak transcription	Esophagus	oesophagus
2	chr2:99983200-100013600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:99990000-100012200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:99994200-100011400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:99997200-100011000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:99999400-100056800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:100000000-100014800	Weak transcription	Psoas Muscle	Psoas
8	chr2:100001000-100022000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:100003600-100011400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:100004800-100023000	Strong transcription	Primary B cells from cord blood	blood
11	chr2:100004800-100044800	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:100005200-100049800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:100005400-100020000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:100005600-100045400	Strong transcription	Primary T cells from cord blood	blood
15	chr2:100005800-100016600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:100005800-100019600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:100005800-100019600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:100005800-100045200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr2:100005800-100062600	Strong transcription	Dnd41	blood
20	chr2:100005800-100066000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:100006000-100012200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:100006000-100019000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:100006000-100019200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:100006000-100019200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:100006000-100019600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:100006000-100023400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:100006000-100026200	Strong transcription	HUVEC	blood vessel
28	chr2:100006000-100034200	Strong transcription	GM12878-XiMat	blood
29	chr2:100006000-100046400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:100006000-100049600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:100006000-100050800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr2:100006000-100051000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:100006000-100081200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr2:100006200-100017800	Strong transcription	Hela-S3	cervix
35	chr2:100006200-100019000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:100006200-100019800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:100006200-100023600	Strong transcription	Fetal Thymus	thymus
38	chr2:100006200-100028600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:100006200-100046400	Strong transcription	Primary B cells from peripheral blood	blood
40	chr2:100006200-100051400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:100006400-100016400	Strong transcription	A549	lung
42	chr2:100006400-100019400	Strong transcription	Osteobl	bone
43	chr2:100006400-100020200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:100006400-100022600	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:100006400-100023000	Strong transcription	Primary hematopoietic stem cells	blood
46	chr2:100006400-100034200	Strong transcription	Fetal Brain Female	brain
47	chr2:100006400-100046600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:100006600-100013600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:100006600-100013800	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:100006600-100015000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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