Variant report

Variant	rs2268450
Chromosome Location	chr6:144285159-144285160
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144280416..144282803-chr6:144283309..144285959,2	MCF-7	breast:
2	chr6:144284653..144286601-chr6:144327499..144329714,2	K562	blood:
3	chr6:144284921..144286601-chr6:144327267..144329714,2	K562	blood:

Variant related genes	Relation type
ENSG00000118495	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17073267	1.00[CEU][hapmap];0.94[GIH][hapmap];0.82[MEX][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs17073273	1.00[YRI][hapmap]
rs17615967	0.83[CEU][hapmap];1.00[YRI][hapmap]
rs2268445	0.94[CEU][hapmap];0.94[GIH][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs7770000	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3522138	chr6:144174685-144367463	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3522139	chr6:144174685-144367463	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830830	chr6:144177942-144380870	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2268450	HIVEP2	cis	parietal	SCAN

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144258400-144288000	Weak transcription	Primary T cells from cord blood	blood
2	chr6:144261600-144285800	Weak transcription	Small Intestine	intestine
3	chr6:144261600-144287000	Weak transcription	GM12878-XiMat	blood
4	chr6:144269200-144290200	Weak transcription	Fetal Thymus	thymus
5	chr6:144269400-144287400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:144269400-144289600	Weak transcription	Pancreas	Pancrea
7	chr6:144269600-144294000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr6:144269800-144285200	Weak transcription	Spleen	Spleen
9	chr6:144269800-144286000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr6:144269800-144286400	Weak transcription	Right Ventricle	heart
11	chr6:144269800-144286600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:144269800-144289800	Weak transcription	Ovary	ovary
13	chr6:144269800-144296000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:144269800-144304400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:144271400-144296800	Weak transcription	Primary B cells from cord blood	blood
16	chr6:144274400-144289800	Weak transcription	Esophagus	oesophagus
17	chr6:144275000-144293000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:144276600-144287000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:144277200-144291200	Genic enhancers	Fetal Muscle Leg	muscle
20	chr6:144277600-144287000	Weak transcription	HMEC	breast
21	chr6:144278800-144286600	Weak transcription	NHDF-Ad	bronchial
22	chr6:144280200-144290400	Weak transcription	Fetal Heart	heart
23	chr6:144280400-144287200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr6:144280400-144287400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr6:144280400-144288200	Weak transcription	Gastric	stomach
26	chr6:144280400-144291400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:144280600-144286000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:144280600-144287800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
29	chr6:144280800-144287800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
30	chr6:144281200-144285200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:144281200-144285400	Enhancers	Fetal Lung	lung
32	chr6:144281200-144286800	Enhancers	Adipose Nuclei	Adipose
33	chr6:144281400-144286000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr6:144281800-144285200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:144281800-144285200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr6:144281800-144286200	Weak transcription	Osteobl	bone
37	chr6:144281800-144294800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr6:144282000-144286000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr6:144283200-144287800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr6:144283400-144286000	Weak transcription	Colon Smooth Muscle	Colon
41	chr6:144283400-144286200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:144283600-144285400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:144283600-144286000	Weak transcription	Fetal Brain Female	brain
44	chr6:144283800-144285200	Enhancers	Fetal Intestine Small	intestine
45	chr6:144283800-144286400	Enhancers	Placenta	Placenta
46	chr6:144283800-144287400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr6:144284000-144286000	Weak transcription	Fetal Kidney	kidney
48	chr6:144284200-144285200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:144284200-144285600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr6:144284200-144286200	Enhancers	Right Atrium	heart

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