Variant report

Variant	rs9322185
Chromosome Location	chr6:149863144-149863145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:149412160..149414295-chr6:149861295..149864069,2	K562	blood:
2	chr6:149855188..149859301-chr6:149860677..149864664,6	K562	blood:
3	chr6:149862349..149865484-chr6:149865615..149868739,5	MCF-7	breast:
4	chr6:149851362..149854820-chr6:149861606..149865173,4	K562	blood:

Variant related genes	Relation type
ENSG00000131013	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10485097	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1125107	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12524946	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12663698	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12665533	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1474640	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17732745	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2105200	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2341550	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2341551	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2341768	0.93[ASN][1000 genomes]
rs28580659	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2880075	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34870994	0.80[ASN][1000 genomes]
rs3813675	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4869797	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4897128	0.89[ASN][1000 genomes]
rs4897130	0.85[ASN][1000 genomes]
rs4897131	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4897132	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4897133	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4897137	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4897138	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4897139	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60404985	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62439778	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62442787	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62442788	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62442789	0.93[ASN][1000 genomes]
rs62442790	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62442792	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62442793	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62442795	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62442798	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6570968	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6911016	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6929614	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs761617	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7753560	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7774559	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7774597	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs909792	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9322184	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9373594	0.81[EUR][1000 genomes]
rs9373595	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9373596	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9377220	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9377221	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9377223	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9377224	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9390684	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9390687	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9390688	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9390689	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9399689	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9399690	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9404042	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9404043	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9404044	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9406344	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9498368	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9689569	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9800648	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv966665	chr6:149862756-149895103	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9322185	GINM1	cis	Nerve Tibial	GTEx
rs9322185	RP11-350J20.5	cis	Thyroid	GTEx
rs9322185	GINM1	cis	Thyroid	GTEx
rs9322185	RP11-350J20.5	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149820600-149865200	Weak transcription	Stomach Mucosa	stomach
2	chr6:149824600-149864200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:149830600-149865600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:149832000-149865800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:149835000-149863600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:149837400-149866000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:149839000-149863800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:149840600-149863600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:149841200-149865200	Weak transcription	Fetal Heart	heart
10	chr6:149849400-149865200	Weak transcription	Psoas Muscle	Psoas
11	chr6:149850800-149865600	Weak transcription	Right Ventricle	heart
12	chr6:149852400-149865800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:149855600-149863800	Weak transcription	Small Intestine	intestine
14	chr6:149855600-149865200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:149855800-149865200	Weak transcription	Hela-S3	cervix
16	chr6:149859600-149863200	Strong transcription	HepG2	liver
17	chr6:149860800-149865200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr6:149860800-149865400	Weak transcription	Colonic Mucosa	Colon
19	chr6:149860800-149865400	Weak transcription	Fetal Brain Male	brain
20	chr6:149861000-149863600	Weak transcription	Primary T cells from cord blood	blood
21	chr6:149861000-149863600	Weak transcription	Brain Angular Gyrus	brain
22	chr6:149861000-149863600	Weak transcription	GM12878-XiMat	blood
23	chr6:149861000-149863800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr6:149861000-149864000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr6:149861000-149864000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr6:149861000-149864000	Weak transcription	Fetal Brain Female	brain
27	chr6:149861000-149864000	Weak transcription	NH-A	brain
28	chr6:149861000-149864800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr6:149861000-149865200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:149861000-149865200	Weak transcription	Brain Hippocampus Middle	brain
31	chr6:149861000-149865200	Weak transcription	Gastric	stomach
32	chr6:149861000-149865400	Weak transcription	A549	lung
33	chr6:149861000-149865400	Weak transcription	HUVEC	blood vessel
34	chr6:149861000-149865600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:149861000-149865600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr6:149861000-149865800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr6:149861200-149864200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:149861200-149865800	Weak transcription	Aorta	Aorta
39	chr6:149861200-149865800	Weak transcription	Esophagus	oesophagus
40	chr6:149861600-149863600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:149861600-149864400	Weak transcription	NHEK	skin
42	chr6:149861600-149865200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:149861600-149865400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:149861600-149865400	Weak transcription	Brain Substantia Nigra	brain
45	chr6:149861600-149865400	Weak transcription	HSMMtube	muscle
46	chr6:149861800-149863400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr6:149861800-149863800	Weak transcription	Brain Anterior Caudate	brain
48	chr6:149861800-149865000	Weak transcription	Brain Germinal Matrix	brain
49	chr6:149861800-149865200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:149861800-149865200	Weak transcription	Fetal Intestine Small	intestine

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