Variant report

Variant	rs2844232
Chromosome Location	chr8:110570060-110570061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:110569816..110571578-chr8:110666909..110668539,2	MCF-7	breast:
2	chr8:110569418..110572612-chr8:110654635..110657421,3	MCF-7	breast:
3	chr8:110549575..110553819-chr8:110567955..110572978,5	K562	blood:
4	chr8:110569816..110571447-chr8:110572078..110574327,2	K562	blood:
5	chr8:110569733..110571848-chr8:110575004..110576852,2	K562	blood:
6	chr8:110345563..110348086-chr8:110569679..110571779,2	K562	blood:

Variant related genes	Relation type
ENSG00000147642	Chromatin interaction
ENSG00000120533	Chromatin interaction
ENSG00000147654	Chromatin interaction
ENSG00000120526	Chromatin interaction
ENSG00000248050	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1026439	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1423	0.92[ASN][1000 genomes]
rs1457284	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs1471124	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1471125	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1563579	0.91[CHB][hapmap];0.81[JPT][hapmap];0.87[YRI][hapmap]
rs1626759	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs1627570	0.85[JPT][hapmap]
rs1673390	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs1673393	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs1673396	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1673397	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1673398	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs1673400	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1673401	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1673404	0.85[JPT][hapmap]
rs1673405	0.81[JPT][hapmap]
rs1673407	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs1673408	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1673429	0.81[ASN][1000 genomes]
rs1783142	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1783143	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1783144	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1783145	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1783149	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1783151	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1783152	0.86[JPT][hapmap]
rs1783163	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1783165	0.81[JPT][hapmap]
rs2607637	0.86[JPT][hapmap]
rs2607638	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2607639	0.85[JPT][hapmap]
rs2844251	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2844252	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2844253	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs714994	0.81[JPT][hapmap]
rs9297426	1.00[YRI][hapmap]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs2844232	EBAG9	cis	temporal cortex	BrainEAC
rs2844232	PKHD1L1	cis	lymphoblastoid	seeQTL
rs2844232	EBAG9	cis	cerebellar cortex	BrainEAC
rs2844232	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL
rs2844232	PKHD1L1	cis	Thyroid	GTEx
rs2844232	EBAG9	cis	intralobular white matter	BrainEAC
rs2844232	SYBU	cis	cerebellum	SCAN
rs2844232	PKHD1L1	cis	Nerve Tibial	GTEx
rs2844232	EBAG9	cis	frontal cortex	BrainEAC
rs2844232	EBAG9	cis	brain	BrainEAC

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110553000-110571800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:110553000-110587000	Weak transcription	Esophagus	oesophagus
3	chr8:110553800-110613000	Weak transcription	NHLF	lung
4	chr8:110554000-110571400	Weak transcription	Fetal Intestine Small	intestine
5	chr8:110554000-110571400	Weak transcription	Pancreas	Pancrea
6	chr8:110554000-110583000	Weak transcription	HMEC	breast
7	chr8:110554000-110589200	Weak transcription	Psoas Muscle	Psoas
8	chr8:110554200-110576000	Weak transcription	Brain Substantia Nigra	brain
9	chr8:110555200-110579200	Weak transcription	Brain Angular Gyrus	brain
10	chr8:110558800-110587800	Weak transcription	Stomach Mucosa	stomach
11	chr8:110562800-110577400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:110563000-110578000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr8:110563000-110580000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:110563000-110586800	Weak transcription	Spleen	Spleen
15	chr8:110563200-110577800	Strong transcription	Dnd41	blood
16	chr8:110563600-110577600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr8:110563600-110580400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:110564200-110577400	Strong transcription	Primary B cells from cord blood	blood
19	chr8:110564400-110587200	Weak transcription	Colonic Mucosa	Colon
20	chr8:110564600-110570600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr8:110565000-110570600	Strong transcription	K562	blood
22	chr8:110565000-110571000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:110565000-110573000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:110565000-110573400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr8:110565000-110578200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr8:110565200-110570400	Strong transcription	Primary hematopoietic stem cells	blood
27	chr8:110565400-110570600	Strong transcription	HSMM	muscle
28	chr8:110565400-110573400	Strong transcription	Liver	Liver
29	chr8:110565400-110580200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr8:110565600-110570600	Strong transcription	Placenta	Placenta
31	chr8:110565600-110577400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr8:110565800-110571000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:110565800-110573200	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr8:110565800-110586800	Weak transcription	NHEK	skin
35	chr8:110566000-110570600	Strong transcription	Fetal Lung	lung
36	chr8:110566000-110577800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:110566200-110573200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr8:110566400-110570600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:110566400-110571400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr8:110566600-110570600	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:110566800-110570600	Strong transcription	A549	lung
42	chr8:110566800-110571000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:110566800-110571800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:110566800-110573000	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:110566800-110573800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr8:110566800-110579600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:110567000-110571000	Strong transcription	NH-A	brain
48	chr8:110567000-110582000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:110567000-110593200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr8:110567200-110570400	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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