Variant report

Variant	rs316330
Chromosome Location	chr7:65605372-65605373
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65603533..65606431-chr7:65683250..65685813,2	K562	blood:
2	chr7:65600886..65602762-chr7:65604829..65606562,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10807701	1.00[CEU][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	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv971489	chr7:65590579-65614004	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs316330	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs316330	ASL	cis	multi-tissue	Pritchard
rs316330	VKORC1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65580800-65606800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:65581000-65617200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:65582400-65608200	Weak transcription	Fetal Brain Male	brain
4	chr7:65587800-65606600	Weak transcription	Stomach Mucosa	stomach
5	chr7:65590800-65613400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:65591600-65607200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:65594600-65610800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:65594800-65606200	Strong transcription	Fetal Muscle Trunk	muscle
9	chr7:65594800-65612200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:65594800-65614400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr7:65595000-65614400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr7:65595000-65614600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:65595000-65615200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:65595200-65606200	Strong transcription	Fetal Muscle Leg	muscle
15	chr7:65595200-65613600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:65595200-65614000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:65595200-65622000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:65595600-65623200	Strong transcription	Dnd41	blood
19	chr7:65595600-65623800	Strong transcription	Primary T cells from cord blood	blood
20	chr7:65595800-65605600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:65595800-65608200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr7:65595800-65617200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:65595800-65620000	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr7:65596600-65606400	Weak transcription	Gastric	stomach
25	chr7:65596600-65607200	Weak transcription	Right Ventricle	heart
26	chr7:65596800-65606800	Weak transcription	Ovary	ovary
27	chr7:65597000-65606400	Weak transcription	Pancreas	Pancrea
28	chr7:65597400-65606800	Weak transcription	Psoas Muscle	Psoas
29	chr7:65597600-65606600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:65597600-65606800	Weak transcription	Fetal Kidney	kidney
31	chr7:65597600-65607200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:65598200-65608000	Weak transcription	Small Intestine	intestine
33	chr7:65598800-65607000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:65598800-65613600	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr7:65599000-65612200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr7:65599200-65605400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:65599200-65612200	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr7:65599200-65612800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr7:65599200-65614200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:65599200-65623400	Strong transcription	Primary B cells from peripheral blood	blood
41	chr7:65599600-65612800	Strong transcription	Primary hematopoietic stem cells	blood
42	chr7:65600000-65605800	Strong transcription	Liver	Liver
43	chr7:65600200-65606000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr7:65600200-65606200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr7:65600200-65606600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr7:65600200-65606600	Weak transcription	Brain Angular Gyrus	brain
47	chr7:65600200-65606800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr7:65600200-65606800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr7:65600200-65607000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:65600400-65606400	Weak transcription	Brain Substantia Nigra	brain

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