Variant report

Variant	rs584507
Chromosome Location	chr10:6531750-6531751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:6529630..6532187-chr10:6532263..6535190,3	K562	blood:
2	chr10:6531681..6534268-chr10:6546145..6550196,3	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11597105	0.90[CHB][hapmap]
rs3793730	0.90[CHB][hapmap]

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	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1053440	chr10:6354798-6669469	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv1047309	chr10:6495583-6714060	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs584507	HEPH	trans	lymphoblastoid	seeQTL

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6496600-6539200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr10:6498400-6537000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr10:6499200-6562000	Weak transcription	Brain Anterior Caudate	brain
4	chr10:6501800-6557000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr10:6503000-6533000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr10:6509200-6541200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:6509800-6533000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:6510000-6572000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr10:6514000-6540000	Weak transcription	Psoas Muscle	Psoas
10	chr10:6516400-6535800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr10:6517000-6531800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr10:6517200-6557800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr10:6517600-6539600	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr10:6517600-6541800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr10:6518200-6535400	Weak transcription	Fetal Kidney	kidney
16	chr10:6518200-6556800	Weak transcription	Fetal Intestine Large	intestine
17	chr10:6519000-6535400	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr10:6519200-6544400	Weak transcription	Spleen	Spleen
19	chr10:6519600-6532400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr10:6520000-6535600	Weak transcription	Fetal Intestine Small	intestine
21	chr10:6521000-6537200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr10:6521200-6533000	Weak transcription	HMEC	breast
23	chr10:6523000-6534600	Weak transcription	Ovary	ovary
24	chr10:6525000-6532800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr10:6525200-6532600	Weak transcription	NHEK	skin
26	chr10:6525400-6532400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr10:6525400-6532800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr10:6525400-6533000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr10:6525800-6532400	Strong transcription	Thymus	Thymus
30	chr10:6525800-6534000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr10:6525800-6535400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr10:6525800-6535800	Strong transcription	Dnd41	blood
33	chr10:6525800-6539400	Weak transcription	Primary B cells from cord blood	blood
34	chr10:6526000-6535200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr10:6526200-6535400	Strong transcription	Primary T cells from cord blood	blood
36	chr10:6526400-6531800	Weak transcription	Fetal Stomach	stomach
37	chr10:6526400-6532000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr10:6526400-6534400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr10:6526600-6553000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr10:6526800-6531800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
41	chr10:6527000-6533000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr10:6527000-6534200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr10:6527200-6534000	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr10:6527200-6535000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr10:6527400-6533600	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr10:6527400-6534600	Strong transcription	Fetal Muscle Trunk	muscle
47	chr10:6527400-6542000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr10:6527600-6531800	Weak transcription	Brain Substantia Nigra	brain
49	chr10:6528400-6537200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr10:6528400-6540800	Weak transcription	Brain Angular Gyrus	brain

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