Variant report

Variant	rs73913171
Chromosome Location	chr2:9815277-9815278
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:9814367..9816792-chr2:9820023..9823010,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1004488	1.00[AMR][1000 genomes]
rs10172624	1.00[AMR][1000 genomes]
rs10188428	1.00[AMR][1000 genomes]
rs10190680	1.00[AMR][1000 genomes]
rs10200454	1.00[AMR][1000 genomes]
rs10208526	1.00[AMR][1000 genomes]
rs10469619	1.00[AMR][1000 genomes]
rs16867145	1.00[AMR][1000 genomes]
rs4327210	1.00[AMR][1000 genomes]
rs6723929	1.00[AMR][1000 genomes]
rs6728922	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9809400-9815400	Weak transcription	Brain Angular Gyrus	brain
2	chr2:9809600-9815400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:9809800-9815400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:9810400-9815800	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:9813800-9817000	Enhancers	K562	blood
6	chr2:9814000-9815400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:9814000-9816000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:9814200-9815400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:9814200-9815400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:9814200-9815400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:9814200-9815600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:9814200-9816600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:9814400-9815400	Enhancers	HSMM	muscle
14	chr2:9814400-9817000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:9814800-9815400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:9814800-9815400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:9814800-9815400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:9814800-9815400	Enhancers	NHEK	skin
19	chr2:9814800-9815400	Enhancers	NHLF	lung
20	chr2:9814800-9815600	Enhancers	NHDF-Ad	bronchial
21	chr2:9814800-9815800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:9814800-9816600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:9814800-9816800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:9815000-9815400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:9815000-9815400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:9815000-9815400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:9815000-9815400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:9815000-9815400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:9815000-9815400	Enhancers	Brain Cingulate Gyrus	brain
30	chr2:9815000-9815400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr2:9815000-9815400	Enhancers	Brain Substantia Nigra	brain
32	chr2:9815000-9815400	Enhancers	HMEC	breast
33	chr2:9815000-9815600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:9815000-9815600	Enhancers	Brain Anterior Caudate	brain
35	chr2:9815000-9815600	Enhancers	HSMMtube	muscle
36	chr2:9815000-9815600	Enhancers	HUVEC	blood vessel
37	chr2:9815000-9815800	Enhancers	H9 Cell Line	embryonic stem cell
38	chr2:9815000-9815800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr2:9815000-9816000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr2:9815000-9816200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr2:9815000-9816200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:9815000-9816200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr2:9815000-9816400	Enhancers	H1 Cell Line	embryonic stem cell
44	chr2:9815000-9816400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:9815000-9816400	Flanking Active TSS	A549	lung
46	chr2:9815000-9816400	Flanking Active TSS	NH-A	brain
47	chr2:9815000-9817000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:9815200-9815600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr2:9815200-9815600	Enhancers	Brain Hippocampus Middle	brain
50	chr2:9815200-9816000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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