Variant report

Variant	rs34419942
Chromosome Location	chr2:153508885-153508886
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153508460..153510793-chr2:153521009..153523864,2	K562	blood:
2	chr2:153507139..153509192-chr2:153512768..153515123,2	K562	blood:
3	chr2:153506687..153509225-chr2:153511022..153513824,2	K562	blood:
4	chr2:153508390..153510353-chr2:153529537..153532383,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10208744	0.85[ASN][1000 genomes]
rs1036525	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497116	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13012521	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13021349	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17328643	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400610	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17400736	0.92[ASN][1000 genomes]
rs1986744	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34043301	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34121167	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6738344	0.92[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	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3693438	chr2:153505376-153718246	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153469000-153509800	Weak transcription	Small Intestine	intestine
2	chr2:153472000-153522000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:153492400-153513400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:153495400-153517400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:153497000-153531800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:153497200-153514000	Weak transcription	Colonic Mucosa	Colon
7	chr2:153497200-153521200	Weak transcription	Esophagus	oesophagus
8	chr2:153497400-153516200	Weak transcription	Spleen	Spleen
9	chr2:153498400-153512200	Weak transcription	Thymus	Thymus
10	chr2:153500000-153512200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:153500400-153517200	Weak transcription	Hela-S3	cervix
12	chr2:153500800-153509800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:153501400-153531800	Weak transcription	Aorta	Aorta
14	chr2:153503000-153510600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:153503200-153512200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr2:153503400-153509800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:153503400-153512800	Weak transcription	Fetal Stomach	stomach
18	chr2:153503600-153512400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr2:153503800-153514600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:153504400-153538200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:153504600-153512200	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:153504600-153512800	Weak transcription	Lung	lung
23	chr2:153504600-153513600	Weak transcription	Fetal Kidney	kidney
24	chr2:153504600-153514800	Weak transcription	Fetal Heart	heart
25	chr2:153504600-153516000	Weak transcription	Fetal Intestine Small	intestine
26	chr2:153504800-153512200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:153505000-153509200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:153505000-153509200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:153505000-153510000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:153505000-153510600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:153505000-153511000	Weak transcription	Fetal Brain Female	brain
32	chr2:153505000-153512200	Weak transcription	Psoas Muscle	Psoas
33	chr2:153505000-153512200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:153505000-153512400	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:153505000-153512600	Weak transcription	Fetal Brain Male	brain
36	chr2:153505000-153513200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:153505000-153513200	Weak transcription	Pancreas	Pancrea
38	chr2:153505000-153513400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr2:153505000-153515200	Weak transcription	Ovary	ovary
40	chr2:153505000-153516800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:153505000-153517400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:153505000-153517400	Weak transcription	Gastric	stomach
43	chr2:153505000-153517400	Weak transcription	Right Ventricle	heart
44	chr2:153505000-153540200	Strong transcription	Fetal Thymus	thymus
45	chr2:153505200-153513400	Weak transcription	Brain Angular Gyrus	brain
46	chr2:153505200-153514800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:153505400-153510600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:153505400-153512800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:153505400-153512800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:153505400-153513400	Weak transcription	H9 Cell Line	embryonic stem cell

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