Variant report

Variant	rs2106072
Chromosome Location	chr6:30153363-30153364
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	chr6:30146840..30149453-chr6:30151238..30153459,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11158	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1264705	0.85[EUR][1000 genomes]
rs1264706	0.85[EUR][1000 genomes]
rs1573296	0.98[EUR][1000 genomes]
rs1970	0.98[EUR][1000 genomes]
rs2023473	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2157678	0.98[EUR][1000 genomes]
rs2517601	0.82[EUR][1000 genomes]
rs2517609	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2517617	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2517622	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2523712	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2523729	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2523978	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2844777	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2844789	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3094054	0.81[EUR][1000 genomes]
rs3094056	0.81[EUR][1000 genomes]
rs3094057	0.81[EUR][1000 genomes]
rs3094058	0.81[EUR][1000 genomes]
rs3094064	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3094066	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3094067	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3094069	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3094078	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3094620	0.81[EUR][1000 genomes]
rs3094624	0.81[EUR][1000 genomes]
rs3094625	0.81[EUR][1000 genomes]
rs3094628	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3129815	0.81[EUR][1000 genomes]
rs3129830	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3130350	0.81[EUR][1000 genomes]
rs3130351	0.81[EUR][1000 genomes]
rs3130352	0.81[EUR][1000 genomes]
rs3130353	0.81[EUR][1000 genomes]
rs3130355	0.83[EUR][1000 genomes]
rs3130364	0.81[EUR][1000 genomes]
rs3130377	0.81[EUR][1000 genomes]
rs3130380	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3130399	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3132647	0.81[EUR][1000 genomes]
rs3132648	0.81[EUR][1000 genomes]
rs8321	0.83[EUR][1000 genomes]
rs9261290	0.81[EUR][1000 genomes]

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2106072	HLA-C	Cis_chr	lymphoblastoid	RTeQTL
rs2106072	ZNF192	cis	cerebellum	SCAN
rs2106072	BTN2A1	cis	parietal	SCAN
rs2106072	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL
rs2106072	ZNF323	cis	parietal	SCAN
rs2106072	ZNF192	cis	parietal	SCAN
rs2106072	HLA-A	cis	lymphoblastoid	GTEx
rs2106072	ZKSCAN3	cis	parietal	SCAN
rs2106072	HIST1H2BM	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30145000-30173800	Weak transcription	Right Atrium	heart
2	chr6:30148000-30155000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr6:30148000-30173000	Weak transcription	Fetal Heart	heart
4	chr6:30148200-30154800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr6:30148400-30154000	Weak transcription	HUVEC	blood vessel
6	chr6:30149000-30156400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:30149200-30157400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:30149400-30153400	Weak transcription	A549	lung
9	chr6:30149600-30155000	Weak transcription	NHEK	skin
10	chr6:30149800-30153400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:30149800-30153400	Weak transcription	Pancreas	Pancrea
12	chr6:30150000-30155000	Weak transcription	HSMM	muscle
13	chr6:30150000-30156400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:30150200-30156400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:30150200-30163400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:30150400-30154800	Weak transcription	Fetal Lung	lung
17	chr6:30150400-30157000	Weak transcription	Fetal Kidney	kidney
18	chr6:30150600-30153400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr6:30150600-30179200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr6:30150800-30156200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:30151000-30153400	Weak transcription	Stomach Mucosa	stomach
22	chr6:30151000-30154000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:30151000-30154200	Weak transcription	NH-A	brain
24	chr6:30151200-30153400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:30151600-30161400	Strong transcription	Primary T cells from cord blood	blood
26	chr6:30151800-30155000	Strong transcription	Brain Substantia Nigra	brain
27	chr6:30151800-30158200	Strong transcription	Brain Cingulate Gyrus	brain
28	chr6:30151800-30160400	Strong transcription	Thymus	Thymus
29	chr6:30151800-30160600	Strong transcription	Fetal Intestine Small	intestine
30	chr6:30151800-30170400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:30152000-30153400	Strong transcription	Brain Angular Gyrus	brain
32	chr6:30152000-30157200	Strong transcription	Primary hematopoietic stem cells	blood
33	chr6:30152000-30159200	Strong transcription	Brain Anterior Caudate	brain
34	chr6:30152000-30160200	Strong transcription	Fetal Brain Female	brain
35	chr6:30152000-30160200	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr6:30152000-30160400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:30152000-30160600	Strong transcription	Fetal Muscle Leg	muscle
38	chr6:30152000-30160800	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr6:30152000-30166400	Strong transcription	Liver	Liver
40	chr6:30152000-30168000	Strong transcription	Fetal Intestine Large	intestine
41	chr6:30152000-30168200	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr6:30152000-30168200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:30152000-30168200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:30152000-30169000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:30152000-30170600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:30152000-30172400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:30152200-30154400	Strong transcription	Brain Germinal Matrix	brain
48	chr6:30152200-30154400	Strong transcription	NHLF	lung
49	chr6:30152200-30155000	Strong transcription	Gastric	stomach
50	chr6:30152200-30155200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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