Variant report

Variant	rs34708402
Chromosome Location	chr2:38893450-38893451
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38892007..38895113-chr2:38976994..38979857,4	K562	blood:
2	chr2:38824811..38832919-chr2:38891494..38898299,16	K562	blood:
3	chr2:38825670..38832919-chr2:38891527..38903424,21	K562	blood:
4	chr2:38818005..38820191-chr2:38893287..38895221,2	K562	blood:
5	chr2:38829496..38831232-chr2:38893143..38894875,2	MCF-7	breast:
6	chr2:38891861..38895889-chr2:38976029..38979857,7	K562	blood:

Variant related genes	Relation type
ENSG00000115875	Chromatin interaction
ENSG00000235586	Chromatin interaction
ENSG00000152147	Chromatin interaction
ENSG00000143889	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12105897	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1465654	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023048	0.85[AFR][1000 genomes]
rs17023053	0.85[AFR][1000 genomes]
rs59850365	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59880176	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72895775	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72895788	0.83[AFR][1000 genomes]
rs72895791	0.87[AFR][1000 genomes]
rs72895800	0.83[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	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv581485	chr2:38839323-38893660	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv873882	chr2:38858669-38921498	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv873883	chr2:38881106-38932777	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr2:38892600-38893600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:38892600-38893600	Active TSS	Fetal Lung	lung
3	chr2:38892600-38893600	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr2:38892600-38893800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:38892600-38894000	Active TSS	Fetal Intestine Large	intestine
6	chr2:38892600-38894400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:38892800-38893600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr2:38892800-38893600	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr2:38892800-38893600	Active TSS	Brain Substantia Nigra	brain
10	chr2:38892800-38893600	Active TSS	Fetal Heart	heart
11	chr2:38892800-38893600	Active TSS	A549	lung
12	chr2:38892800-38893600	Active TSS	NHDF-Ad	bronchial
13	chr2:38892800-38893800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr2:38892800-38893800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr2:38892800-38893800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr2:38892800-38893800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:38892800-38893800	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr2:38892800-38893800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:38892800-38893800	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr2:38892800-38893800	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr2:38892800-38893800	Active TSS	Brain Angular Gyrus	brain
22	chr2:38892800-38893800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:38892800-38893800	Flanking Active TSS	Placenta	Placenta
24	chr2:38892800-38893800	Active TSS	Placenta Amnion	Placenta Amnion
25	chr2:38892800-38893800	Active TSS	Psoas Muscle	Psoas
26	chr2:38892800-38893800	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr2:38892800-38893800	Flanking Active TSS	NHEK	skin
28	chr2:38892800-38893800	Active TSS	NHLF	lung
29	chr2:38892800-38894000	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr2:38892800-38894000	Active TSS	Colon Smooth Muscle	Colon
31	chr2:38892800-38894000	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr2:38892800-38894000	Active TSS	Fetal Kidney	kidney
33	chr2:38892800-38894000	Active TSS	Fetal Stomach	stomach
34	chr2:38892800-38894000	Active TSS	Lung	lung
35	chr2:38892800-38894000	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr2:38892800-38894000	Bivalent/Poised TSS	HepG2	liver
37	chr2:38892800-38894200	Active TSS	H1 Cell Line	embryonic stem cell
38	chr2:38892800-38894200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:38892800-38894200	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr2:38892800-38894200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr2:38892800-38894200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:38892800-38894400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:38892800-38894400	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr2:38892800-38894400	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr2:38892800-38894400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr2:38892800-38894400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr2:38892800-38894400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:38892800-38894400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:38892800-38894400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:38892800-38894400	Active TSS	Aorta	Aorta

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