Variant report

Variant	rs73165945
Chromosome Location	chr2:10718595-10718596
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10711662..10714609-chr2:10716774..10718684,2	K562	blood:
2	chr2:10716323..10719861-chr2:10722961..10726442,3	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73180599	0.90[AFR][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	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv833370	chr2:10625149-10785402	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1009897	chr2:10627248-10751468	Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10698600-10736600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10705800-10736000	Strong transcription	Duodenum Mucosa	Duodenum
3	chr2:10707400-10728800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:10708600-10718600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:10708600-10718800	Strong transcription	Primary T cells from cord blood	blood
6	chr2:10708600-10719600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:10708600-10720000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:10708600-10727000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:10708600-10732000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:10708800-10720600	Strong transcription	Fetal Intestine Large	intestine
11	chr2:10708800-10732800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:10709000-10718600	Strong transcription	Dnd41	blood
13	chr2:10709000-10719000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:10709000-10719000	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr2:10709000-10719200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:10709000-10725800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr2:10709000-10726600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr2:10709200-10718600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:10709200-10718600	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr2:10709200-10719200	Strong transcription	Liver	Liver
21	chr2:10709200-10719800	Strong transcription	HepG2	liver
22	chr2:10709200-10746800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:10709400-10732600	Strong transcription	Primary B cells from cord blood	blood
24	chr2:10709600-10718800	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr2:10709800-10719000	Strong transcription	Placenta	Placenta
26	chr2:10709800-10719600	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:10710400-10720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr2:10710600-10718600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:10710800-10721800	Weak transcription	Fetal Heart	heart
30	chr2:10711000-10719400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:10712600-10718600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:10712600-10720200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:10712600-10742000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:10713200-10727800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr2:10713400-10718600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:10713800-10725600	Strong transcription	K562	blood
37	chr2:10714000-10718600	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:10714000-10718600	Strong transcription	GM12878-XiMat	blood
39	chr2:10714200-10718600	Strong transcription	Primary hematopoietic stem cells	blood
40	chr2:10714200-10720000	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:10714800-10719000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:10716400-10719000	Strong transcription	Left Ventricle	heart
43	chr2:10716400-10720000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:10716600-10718600	Strong transcription	HSMM	muscle
45	chr2:10716600-10719000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:10716800-10718600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:10716800-10718600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:10716800-10720200	Strong transcription	A549	lung
49	chr2:10716800-10724400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr2:10717000-10718600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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