Variant report

Variant	rs34961871
Chromosome Location	chr2:74234588-74234589
allele	A/G
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74233183..74235025-chr2:74237105..74239040,2	K562	blood:
2	chr2:74233321..74236267-chr2:74261492..74264516,4	K562	blood:
3	chr2:74153390..74155038-chr2:74234252..74235918,2	MCF-7	breast:
4	chr2:74157469..74158980-chr2:74232368..74234630,2	K562	blood:
5	chr2:74233005..74244618-chr2:74246652..74253562,14	MCF-7	breast:
6	chr2:74232878..74235136-chr2:74239578..74243799,4	MCF-7	breast:
7	chr2:74234336..74236088-chr2:74326202..74328646,2	MCF-7	breast:
8	chr2:74233016..74235025-chr2:74236892..74238605,2	K562	blood:

(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]
rs10165243	0.85[EUR][1000 genomes]
rs10166357	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10206797	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12713802	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13391252	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13391360	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13391722	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13404452	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13416937	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28534414	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28569001	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34363691	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35259799	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35972889	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4241258	0.86[EUR][1000 genomes]
rs7581252	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7608044	0.93[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:122 , 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	chr2:74230600-74235000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:74230600-74240000	Weak transcription	Aorta	Aorta
5	chr2:74230600-74248200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:74231000-74234600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:74231000-74235000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:74231200-74234600	Genic enhancers	Fetal Thymus	thymus
9	chr2:74231200-74234800	Genic enhancers	GM12878-XiMat	blood
10	chr2:74231200-74236600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:74231200-74237400	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:74231200-74237800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr2:74231200-74237800	Enhancers	Left Ventricle	heart
14	chr2:74231200-74240000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:74231200-74246600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr2:74231400-74235200	Strong transcription	Primary B cells from cord blood	blood
17	chr2:74231400-74235800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:74231400-74236400	Weak transcription	Pancreas	Pancrea
19	chr2:74231400-74237600	Enhancers	Ovary	ovary
20	chr2:74231400-74237600	Enhancers	Psoas Muscle	Psoas
21	chr2:74231400-74237600	Strong transcription	Dnd41	blood
22	chr2:74231600-74234600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:74231600-74234800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:74231600-74235000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr2:74231600-74235000	Weak transcription	Small Intestine	intestine
26	chr2:74231600-74236800	Weak transcription	Liver	Liver
27	chr2:74231600-74236800	Weak transcription	NH-A	brain
28	chr2:74231600-74237000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:74231600-74273800	Weak transcription	A549	lung
30	chr2:74231800-74235200	Enhancers	NHLF	lung
31	chr2:74231800-74235400	Weak transcription	HMEC	breast
32	chr2:74231800-74235600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:74231800-74236600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:74231800-74236800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:74231800-74237000	Strong transcription	Fetal Intestine Large	intestine
36	chr2:74232000-74234800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:74232000-74234800	Strong transcription	NHEK	skin
38	chr2:74232000-74235400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr2:74232000-74237600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:74232200-74235000	Genic enhancers	K562	blood
41	chr2:74232200-74235400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr2:74232200-74236400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:74232200-74238600	Strong transcription	Primary T cells from cord blood	blood
44	chr2:74232400-74234600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:74232400-74237400	Enhancers	Adipose Nuclei	Adipose
46	chr2:74232400-74237400	Enhancers	NHDF-Ad	bronchial
47	chr2:74232600-74235200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:74232600-74235200	Enhancers	Right Atrium	heart
49	chr2:74232600-74237800	Strong transcription	Primary B cells from peripheral blood	blood
50	chr2:74232800-74235000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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