Variant report

Variant	rs2328517
Chromosome Location	chr6:144131237-144131238
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144129855..144131481-chr6:144163270..144165818,2	K562	blood:

Variant related genes	Relation type
ENSG00000135521	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2474152	1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2328517	VWDE	trans	lymphoblastoid	seeQTL

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144109800-144136600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:144111000-144143800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:144111400-144140400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:144111600-144149000	Weak transcription	Right Ventricle	heart
5	chr6:144113800-144132200	Weak transcription	A549	lung
6	chr6:144114200-144133200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:144121800-144136800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:144122200-144131600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr6:144122200-144132400	Weak transcription	Small Intestine	intestine
10	chr6:144122200-144133000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr6:144122200-144133200	Weak transcription	Gastric	stomach
12	chr6:144122200-144133800	Weak transcription	Esophagus	oesophagus
13	chr6:144122200-144134200	Weak transcription	Fetal Brain Male	brain
14	chr6:144122200-144139400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:144122200-144140400	Weak transcription	Fetal Heart	heart
16	chr6:144122200-144140600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr6:144122200-144142600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:144122200-144143400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:144122200-144144000	Weak transcription	Colon Smooth Muscle	Colon
20	chr6:144122200-144146800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr6:144122200-144147400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:144122200-144147600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr6:144122200-144147800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr6:144122200-144155000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:144122200-144163600	Weak transcription	Colonic Mucosa	Colon
26	chr6:144122200-144163600	Weak transcription	Fetal Kidney	kidney
27	chr6:144123000-144131600	Strong transcription	Placenta	Placenta
28	chr6:144123600-144150000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:144124000-144133000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr6:144124000-144133200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr6:144125600-144131600	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr6:144125600-144163600	Weak transcription	Psoas Muscle	Psoas
33	chr6:144125800-144143800	Weak transcription	Ovary	ovary
34	chr6:144125800-144163600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr6:144127800-144143600	Weak transcription	NH-A	brain
36	chr6:144127800-144143600	Weak transcription	NHLF	lung
37	chr6:144127800-144143800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:144128000-144139400	Weak transcription	Spleen	Spleen
39	chr6:144128200-144132200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:144128200-144144000	Weak transcription	HSMM	muscle
41	chr6:144128800-144132000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:144128800-144163600	Weak transcription	HSMMtube	muscle
43	chr6:144129200-144133000	Weak transcription	Aorta	Aorta
44	chr6:144129200-144133200	Weak transcription	Lung	lung
45	chr6:144129200-144133600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr6:144129200-144137200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:144129200-144138400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr6:144129200-144140600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr6:144129200-144140800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:144129200-144143800	Weak transcription	NHEK	skin

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