Variant report

Variant	rs7585240
Chromosome Location	chr2:74321075-74321076
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74209051..74213091-chr2:74319558..74323608,5	MCF-7	breast:
2	chr2:74187721..74190060-chr2:74320133..74322704,2	K562	blood:
3	chr2:74209608..74214006-chr2:74318475..74321886,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235499	Chromatin interaction
ENSG00000255989	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10164943	0.81[CEU][hapmap]
rs11885172	0.80[CEU][hapmap]
rs12713810	0.86[CEU][hapmap]
rs12991192	0.85[CEU][hapmap]
rs13014576	0.80[CEU][hapmap]
rs3902790	0.81[CEU][hapmap]
rs6745576	0.81[CEU][hapmap]
rs6755711	0.81[CEU][hapmap]
rs7560668	0.81[CEU][hapmap]
rs7593050	0.81[CEU][hapmap]
rs7606491	0.80[CEU][hapmap]
rs9309478	0.81[CEU][hapmap]

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	nsv874284	chr2:74283728-74348797	Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv874285	chr2:74283728-74355244	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7585240	AUP1	cis	cerebellum	SCAN
rs7585240	PAIP2B	cis	parietal	SCAN
rs7585240	SLC4A5	cis	parietal	SCAN
rs7585240	AUP1	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74269800-74328000	Weak transcription	Psoas Muscle	Psoas
2	chr2:74299800-74332000	Strong transcription	Dnd41	blood
3	chr2:74299800-74333800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:74300000-74333200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:74300800-74333600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:74306000-74332400	Strong transcription	Fetal Intestine Small	intestine
7	chr2:74306400-74332000	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr2:74306800-74323000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:74306800-74323000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:74306800-74323600	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:74306800-74323600	Strong transcription	Brain Germinal Matrix	brain
12	chr2:74306800-74323600	Strong transcription	Fetal Intestine Large	intestine
13	chr2:74306800-74330400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:74307000-74324200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:74307000-74332600	Strong transcription	Primary T cells from cord blood	blood
16	chr2:74307200-74331800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:74307200-74332600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:74307200-74333000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:74307400-74322600	Strong transcription	Fetal Brain Female	brain
20	chr2:74307400-74323600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr2:74307400-74325200	Strong transcription	Fetal Thymus	thymus
22	chr2:74307400-74326000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:74307400-74330400	Strong transcription	Thymus	Thymus
24	chr2:74307600-74322800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr2:74307600-74323600	Strong transcription	Liver	Liver
26	chr2:74307600-74326000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:74307600-74331000	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:74307600-74332000	Strong transcription	Duodenum Mucosa	Duodenum
29	chr2:74307600-74333400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:74308000-74323000	Strong transcription	Adipose Nuclei	Adipose
31	chr2:74308200-74332600	Strong transcription	GM12878-XiMat	blood
32	chr2:74308400-74336200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr2:74308600-74323000	Strong transcription	Spleen	Spleen
34	chr2:74308600-74325000	Strong transcription	Fetal Muscle Trunk	muscle
35	chr2:74308600-74333200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr2:74309200-74321600	Weak transcription	NHDF-Ad	bronchial
37	chr2:74309600-74323000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:74311200-74321600	Weak transcription	Hela-S3	cervix
39	chr2:74311200-74326400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:74312200-74322400	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr2:74312200-74322600	Strong transcription	NHEK	skin
42	chr2:74312200-74325000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:74312200-74333800	Strong transcription	Fetal Stomach	stomach
44	chr2:74313600-74322600	Strong transcription	Right Ventricle	heart
45	chr2:74313600-74323000	Strong transcription	Fetal Lung	lung
46	chr2:74314000-74322600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr2:74314000-74323200	Strong transcription	Primary hematopoietic stem cells	blood
48	chr2:74314200-74323200	Strong transcription	Stomach Smooth Muscle	stomach
49	chr2:74314200-74323400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:74314400-74322600	Strong transcription	Lung	lung

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