Variant report

Variant	rs71416505
Chromosome Location	chr2:113926543-113926544
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113895735..113898572-chr2:113925018..113926554,2	K562	blood:
2	chr2:113914549..113919498-chr2:113924195..113928065,4	K562	blood:
3	chr2:113914220..113919352-chr2:113920287..113927373,11	MCF-7	breast:
4	chr2:113920324..113921949-chr2:113926011..113928205,2	MCF-7	breast:
5	chr2:113920848..113928426-chr2:113929867..113935117,10	K562	blood:

Variant related genes	Relation type
ENSG00000234174	Chromatin interaction
ENSG00000125637	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11693483	1.00[ASN][1000 genomes]
rs11893620	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17043077	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2902453	1.00[ASN][1000 genomes]
rs34091220	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34461072	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45560237	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv582711	chr2:113895516-113984503	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113916000-113939000	Weak transcription	Right Atrium	heart
2	chr2:113921000-113927600	Enhancers	Liver	Liver
3	chr2:113921800-113927000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:113922400-113930200	Weak transcription	Small Intestine	intestine
5	chr2:113922800-113930400	Weak transcription	Fetal Stomach	stomach
6	chr2:113923000-113930200	Weak transcription	Lung	lung
7	chr2:113923000-113931200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:113923000-113932200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:113923000-113951800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:113923000-113956000	Weak transcription	HMEC	breast
11	chr2:113923200-113931600	Weak transcription	Brain Anterior Caudate	brain
12	chr2:113923800-113927600	Enhancers	Pancreas	Pancrea
13	chr2:113923800-113931400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:113923800-113937800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:113924200-113927600	Enhancers	Fetal Thymus	thymus
16	chr2:113924200-113928000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr2:113924400-113927600	Enhancers	Primary B cells from cord blood	blood
18	chr2:113924600-113927000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr2:113924600-113927000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr2:113924600-113927000	Enhancers	Spleen	Spleen
21	chr2:113924800-113926800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:113924800-113927000	Enhancers	Thymus	Thymus
23	chr2:113924800-113927600	Strong transcription	NHEK	skin
24	chr2:113924800-113928000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:113925200-113930000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr2:113925200-113930800	Enhancers	Primary B cells from peripheral blood	blood
27	chr2:113925400-113928000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:113925400-113928800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:113925400-113930400	Weak transcription	K562	blood
30	chr2:113925400-113931000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:113925600-113926800	ZNF genes & repeats	Esophagus	oesophagus
32	chr2:113925600-113927800	Strong transcription	Fetal Intestine Small	intestine
33	chr2:113925600-113928200	Enhancers	HepG2	liver
34	chr2:113925600-113930200	Weak transcription	Fetal Intestine Large	intestine
35	chr2:113925800-113926600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr2:113925800-113927000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr2:113925800-113927000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:113925800-113927600	Enhancers	GM12878-XiMat	blood
39	chr2:113925800-113929600	Weak transcription	Stomach Mucosa	stomach
40	chr2:113926000-113926600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:113926000-113926600	Genic enhancers	Gastric	stomach
42	chr2:113926000-113926800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:113926000-113926800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr2:113926000-113926800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:113926000-113929600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr2:113926200-113926600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr2:113926200-113926600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr2:113926200-113926800	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr2:113926200-113926800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:113926200-113926800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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