Variant report

Variant	rs17036971
Chromosome Location	chr2:48035993-48035994
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48024799..48028415-chr2:48033995..48037320,3	K562	blood:
2	chr2:48009680..48011593-chr2:48034365..48037361,4	K562	blood:

Variant related genes	Relation type
ENSG00000116062	Chromatin interaction
ENSG00000235369	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10490303	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10495948	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17036952	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17037021	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17037040	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17037062	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2134055	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2881863	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3136242	0.91[AMR][1000 genomes]
rs3136274	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3136286	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4381823	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56682209	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56881113	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs58057481	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58552166	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59624704	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60118201	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60303023	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72876814	0.96[EUR][1000 genomes]
rs7560678	0.82[AFR][1000 genomes];0.91[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	nsv998096	chr2:47939614-48131697	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 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	chr2:48012600-48065000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:48016200-48050400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:48017000-48036200	Strong transcription	H1 Cell Line	embryonic stem cell
4	chr2:48017000-48049400	Strong transcription	Fetal Intestine Large	intestine
5	chr2:48017200-48053200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:48017400-48049600	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr2:48017800-48037800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:48021200-48036200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:48021200-48036400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:48021200-48051600	Strong transcription	Placenta	Placenta
11	chr2:48021400-48037200	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr2:48021400-48067600	Strong transcription	Dnd41	blood
13	chr2:48021600-48037400	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:48021600-48037800	Strong transcription	HepG2	liver
15	chr2:48021600-48067000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:48021800-48037400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:48021800-48039800	Strong transcription	Brain Anterior Caudate	brain
18	chr2:48022000-48036200	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr2:48022000-48041400	Strong transcription	HSMM	muscle
20	chr2:48022200-48037600	Strong transcription	Osteobl	bone
21	chr2:48022200-48050200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr2:48022800-48049200	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr2:48022800-48050000	Strong transcription	HUVEC	blood vessel
24	chr2:48023000-48036000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:48023200-48065000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:48023400-48036200	Strong transcription	HSMMtube	muscle
27	chr2:48024200-48038400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:48024400-48038400	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr2:48029200-48040200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
30	chr2:48030200-48036600	Strong transcription	NHEK	skin
31	chr2:48030200-48067600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:48030400-48044200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:48030400-48067000	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:48030600-48038200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:48030800-48040000	Strong transcription	Brain Germinal Matrix	brain
36	chr2:48030800-48040600	Strong transcription	HMEC	breast
37	chr2:48030800-48041400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:48030800-48047200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:48030800-48048000	Strong transcription	Hela-S3	cervix
40	chr2:48030800-48049400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr2:48030800-48049600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr2:48030800-48067000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:48030800-48067000	Strong transcription	Fetal Thymus	thymus
44	chr2:48031000-48036200	Strong transcription	Fetal Muscle Leg	muscle
45	chr2:48031000-48038400	Strong transcription	Fetal Lung	lung
46	chr2:48031000-48038400	Strong transcription	Stomach Smooth Muscle	stomach
47	chr2:48031000-48038800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:48031000-48040400	Strong transcription	NH-A	brain
49	chr2:48031000-48042400	Strong transcription	A549	lung
50	chr2:48031000-48049400	Strong transcription	Fetal Brain Female	brain

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