Variant report

Variant	rs1422
Chromosome Location	chr8:110563304-110563305
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:110429847..110432433-chr8:110563129..110565263,2	K562	blood:
2	chr8:110550646..110556695-chr8:110561304..110567831,11	K562	blood:
3	chr8:110563214..110565678-chr8:110658219..110659984,2	K562	blood:
4	chr8:110550694..110556278-chr8:110557032..110565525,15	MCF-7	breast:
5	chr8:110551988..110555719-chr8:110561035..110566674,6	K562	blood:
6	chr8:110551256..110553567-chr8:110563249..110565097,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147654	Chromatin interaction

rs_ID	r²[population]
rs12164209	1.00[CEU][hapmap]
rs12549027	1.00[CEU][hapmap]
rs16879547	1.00[CEU][hapmap]
rs17368310	1.00[CEU][hapmap]
rs17378154	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17446497	1.00[CEU][hapmap]
rs1964514	1.00[CEU][hapmap]
rs33970535	1.00[AFR][1000 genomes]
rs9643050	1.00[CEU][hapmap]

SNP	Gene	Cis/trans	Tissue	Source
rs1422	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110553000-110564200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:110553000-110565000	Weak transcription	Ovary	ovary
3	chr8:110553000-110565600	Weak transcription	Placenta	Placenta
4	chr8:110553000-110569800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:110553000-110569800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:110553000-110570000	Weak transcription	Lung	lung
7	chr8:110553000-110571800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:110553000-110587000	Weak transcription	Esophagus	oesophagus
9	chr8:110553400-110566600	Weak transcription	Fetal Intestine Large	intestine
10	chr8:110553400-110569800	Weak transcription	Osteobl	bone
11	chr8:110553800-110566800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:110553800-110566800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:110553800-110569600	Weak transcription	Fetal Kidney	kidney
14	chr8:110553800-110569800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:110553800-110613000	Weak transcription	NHLF	lung
16	chr8:110554000-110563600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:110554000-110563600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:110554000-110563600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr8:110554000-110565400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:110554000-110565400	Weak transcription	HSMM	muscle
21	chr8:110554000-110565600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:110554000-110565800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:110554000-110566600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:110554000-110567000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:110554000-110567000	Weak transcription	NH-A	brain
26	chr8:110554000-110567800	Weak transcription	Fetal Thymus	thymus
27	chr8:110554000-110569400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:110554000-110569600	Weak transcription	Fetal Brain Female	brain
29	chr8:110554000-110569800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:110554000-110569800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:110554000-110569800	Weak transcription	Fetal Brain Male	brain
32	chr8:110554000-110569800	Weak transcription	Left Ventricle	heart
33	chr8:110554000-110569800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:110554000-110569800	Weak transcription	Small Intestine	intestine
35	chr8:110554000-110569800	Weak transcription	Thymus	Thymus
36	chr8:110554000-110570000	Weak transcription	Fetal Stomach	stomach
37	chr8:110554000-110570000	Weak transcription	Right Ventricle	heart
38	chr8:110554000-110571400	Weak transcription	Fetal Intestine Small	intestine
39	chr8:110554000-110571400	Weak transcription	Pancreas	Pancrea
40	chr8:110554000-110583000	Weak transcription	HMEC	breast
41	chr8:110554000-110589200	Weak transcription	Psoas Muscle	Psoas
42	chr8:110554200-110564200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr8:110554200-110565800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:110554200-110566600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:110554200-110567200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:110554200-110569800	Weak transcription	Fetal Muscle Leg	muscle
47	chr8:110554200-110569800	Weak transcription	HSMMtube	muscle
48	chr8:110554200-110576000	Weak transcription	Brain Substantia Nigra	brain
49	chr8:110554400-110564200	Weak transcription	Primary B cells from cord blood	blood
50	chr8:110554400-110565000	Weak transcription	NHEK	skin

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