Variant report

Variant	rs10165243
Chromosome Location	chr2:74235556-74235557
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74233321..74236267-chr2:74261492..74264516,4	K562	blood:
2	chr2:74153390..74155038-chr2:74234252..74235918,2	MCF-7	breast:
3	chr2:74235118..74237741-chr2:74241816..74243889,3	K562	blood:
4	chr2:74233005..74244618-chr2:74246652..74253562,14	MCF-7	breast:
5	chr2:74234336..74236088-chr2:74326202..74328646,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BOLA3-4	chr2:74233235-74235861	ucscGeneNc_uc010ffa_1

No data

Variant related genes	Relation type
ENSG00000114956	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10166357	0.81[EUR][1000 genomes]
rs10206797	0.84[EUR][1000 genomes]
rs12713802	0.84[EUR][1000 genomes]
rs13391252	0.86[EUR][1000 genomes]
rs13391360	0.84[EUR][1000 genomes]
rs13391722	0.86[EUR][1000 genomes]
rs13404452	0.86[EUR][1000 genomes]
rs13416937	0.84[EUR][1000 genomes]
rs28534414	0.83[EUR][1000 genomes]
rs28569001	0.83[EUR][1000 genomes]
rs34363691	0.84[EUR][1000 genomes]
rs34961871	0.85[EUR][1000 genomes]
rs35259799	0.86[EUR][1000 genomes]
rs35972889	0.84[EUR][1000 genomes]
rs4241258	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7581252	0.90[EUR][1000 genomes]
rs7608044	0.90[EUR][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	nsv1011177	chr2:74167343-74239905	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74230400-74236200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:74230400-74246800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:74230600-74240000	Weak transcription	Aorta	Aorta
4	chr2:74230600-74248200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:74231200-74236600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:74231200-74237400	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:74231200-74237800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr2:74231200-74237800	Enhancers	Left Ventricle	heart
9	chr2:74231200-74240000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:74231200-74246600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr2:74231400-74235800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:74231400-74236400	Weak transcription	Pancreas	Pancrea
13	chr2:74231400-74237600	Enhancers	Ovary	ovary
14	chr2:74231400-74237600	Enhancers	Psoas Muscle	Psoas
15	chr2:74231400-74237600	Strong transcription	Dnd41	blood
16	chr2:74231600-74236800	Weak transcription	Liver	Liver
17	chr2:74231600-74236800	Weak transcription	NH-A	brain
18	chr2:74231600-74237000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:74231600-74273800	Weak transcription	A549	lung
20	chr2:74231800-74235600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:74231800-74236600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr2:74231800-74236800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:74231800-74237000	Strong transcription	Fetal Intestine Large	intestine
24	chr2:74232000-74237600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:74232200-74236400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:74232200-74238600	Strong transcription	Primary T cells from cord blood	blood
27	chr2:74232400-74237400	Enhancers	Adipose Nuclei	Adipose
28	chr2:74232400-74237400	Enhancers	NHDF-Ad	bronchial
29	chr2:74232600-74237800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr2:74233000-74235600	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr2:74233000-74236200	Enhancers	Fetal Lung	lung
32	chr2:74233000-74237400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:74233000-74237400	Enhancers	Fetal Brain Male	brain
34	chr2:74233000-74237600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:74233000-74237600	Enhancers	Brain Substantia Nigra	brain
36	chr2:74233000-74247000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:74233200-74236400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:74233200-74236400	Enhancers	Fetal Muscle Trunk	muscle
39	chr2:74233200-74237800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr2:74233400-74235600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr2:74233400-74236400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:74233400-74236800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr2:74233400-74237000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr2:74233400-74237200	Enhancers	Osteobl	bone
45	chr2:74233400-74238000	Enhancers	Placenta	Placenta
46	chr2:74233400-74239200	Weak transcription	Hela-S3	cervix
47	chr2:74233400-74248600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:74233600-74236200	Enhancers	Fetal Muscle Leg	muscle
49	chr2:74233600-74237000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr2:74233600-74237200	Enhancers	HUES64 Cell Line	embryonic stem cell

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