Variant report

Variant	rs2736621
Chromosome Location	chr2:191212989-191212990
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:191212964-191213014	AG04450	lung:	fetal
2	chr2:191212964-191213014	GM19239	blood:	n/a
3	chr2:191212964-191213014	AG09309	skin:	n/a
4	chr2:191212964-191213014	IMR90	lung:	fetal
5	chr2:191212964-191213014	CMK	blood:	n/a
6	chr2:191212964-191213014	K562	blood:	n/a
7	chr2:191212964-191213014	ECC-1	luminal epithelium:	n/a
8	chr2:191212964-191213014	HNPCEpiC	eye:	n/a
9	chr2:191212964-191213014	SK-N-MC	brain:	n/a
10	chr2:191212964-191213014	HRCEpiC	kidney:	n/a
11	chr2:191212964-191213014	PANC-1	pancreas:	n/a
12	chr2:191212964-191213014	HCM	heart:	n/a
13	chr2:191212964-191213014	HCPEpiC	choroid plexus:	n/a
14	chr2:191212964-191213014	HUVEC	blood vessel:	n/a
15	chr2:191212964-191213014	PFSK-1	brain:	n/a
16	chr2:191212964-191213014	SKMC	muscle:	n/a
17	chr2:191212964-191213014	HEK293	kidney:	embryo
18	chr2:191212964-191213014	Caco-2	colon:	n/a
19	chr2:191212964-191213014	NB4	blood:	n/a
20	chr2:191212964-191213014	NHDF-neo	bronchial:	n/a
21	chr2:191212964-191213014	SAEC	small airway:	n/a
22	chr2:191212964-191213014	HCT-116	colon:	n/a
23	chr2:191212964-191213014	BJ	skin:	n/a
24	chr2:191212964-191213014	HRPEpiC	eye:	n/a
25	chr2:191212964-191213014	H1-hESC	embryonic stem cell:	embryo
26	chr2:191212964-191213014	MCF10A-Er-Src	breast:	n/a
27	chr2:191212964-191213014	Jurkat	blood:	n/a
28	chr2:191212964-191213014	HCF	heart:	n/a
29	chr2:191212964-191213014	Hepatocyte	liver:	n/a
30	chr2:191212964-191213014	SK-N-SH	brain:	n/a
31	chr2:191212964-191213014	NHBE	bronchial:	n/a
32	chr2:191212964-191213014	AG10803	skin:	n/a
33	chr2:191212964-191213014	AG04449	skin:	fetal
34	chr2:191212964-191213014	GM12891	blood:	n/a
35	chr2:191212964-191213014	ProgFib	skin:	n/a
36	chr2:191212964-191213014	HIPEpiC	eye:	n/a
37	chr2:191212964-191213014	GM06990	blood:	n/a
38	chr2:191212964-191213014	AoSMC	blood vessel:	n/a
39	chr2:191212964-191213014	MCF-7	breast:	n/a
40	chr2:191212964-191213014	HMEC	breast:	n/a
41	chr2:191212964-191213014	BE2_C	brain:	n/a
42	chr2:191212964-191213014	A549	lung:	n/a
43	chr2:191212964-191213014	HPAEpiC	pulmonary alveolar:	n/a
44	chr2:191212964-191213014	HL-60	blood:	n/a
45	chr2:191212964-191213014	HAEpiC	amniotic membrane:	n/a
46	chr2:191212964-191213014	GM12892	blood:	n/a
47	chr2:191212964-191213014	SK-N-SH_RA	brain:	n/a
48	chr2:191212964-191213014	Hela-S3	cervix:	n/a
49	chr2:191212964-191213014	LNCaP	prostate:	n/a
50	chr2:191212964-191213014	ovcar-3	ovarian:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:191211450..191214402-chr2:191215945..191217480,2	MCF-7	breast:
2	chr2:191160275..191162665-chr2:191211268..191214230,2	K562	blood:
3	chr2:191212674..191214440-chr2:191216192..191218730,2	MCF-7	breast:
4	chr2:191212374..191214563-chr2:191217575..191219324,2	K562	blood:

No data

Variant related genes	Relation type
HIBCH	CpG island

Extended variants
information (count: 43 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10931450	0.82[ASN][1000 genomes]
rs1372054	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1882892	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1984626	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2015744	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2016037	0.99[ASN][1000 genomes]
rs2067391	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067392	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2067393	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2067394	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067395	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2067397	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2067400	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2067402	0.97[ASN][1000 genomes]
rs2067405	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067406	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067407	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067408	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067409	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067412	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067414	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067415	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067416	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067417	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067420	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067421	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067423	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067424	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2067425	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2582753	0.98[ASN][1000 genomes]
rs2736622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3791815	0.97[ASN][1000 genomes]
rs3791816	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4656	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4853694	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6707602	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6707681	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6721431	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72627906	0.97[ASN][1000 genomes]
rs972689	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs972690	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs972691	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs979329	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2736621	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs2736621	HIBCH	cis	Thyroid	GTEx
rs2736621	HIBCH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191205800-191216200	Weak transcription	K562	blood
2	chr2:191209200-191216800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:191209200-191216800	Weak transcription	Gastric	stomach
4	chr2:191209200-191216800	Weak transcription	Lung	lung
5	chr2:191209200-191217200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:191209400-191213200	Weak transcription	Aorta	Aorta
7	chr2:191209400-191216800	Weak transcription	Left Ventricle	heart
8	chr2:191209400-191217200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:191209400-191217800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:191209400-191221000	Weak transcription	Placenta	Placenta
11	chr2:191209400-191222800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:191209400-191224600	Weak transcription	Colonic Mucosa	Colon
13	chr2:191209600-191216800	Weak transcription	Fetal Stomach	stomach
14	chr2:191209600-191217800	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:191209800-191214800	Weak transcription	HSMMtube	muscle
16	chr2:191209800-191215000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:191209800-191215000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:191209800-191215200	Weak transcription	HSMM	muscle
19	chr2:191209800-191216400	Weak transcription	Fetal Heart	heart
20	chr2:191209800-191216600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:191209800-191216600	Weak transcription	Stomach Mucosa	stomach
22	chr2:191209800-191216800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:191209800-191216800	Weak transcription	Fetal Intestine Large	intestine
24	chr2:191209800-191217000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:191209800-191217200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:191209800-191217200	Weak transcription	Right Ventricle	heart
27	chr2:191209800-191217400	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:191209800-191217800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:191209800-191223200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:191209800-191223400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:191209800-191224600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:191209800-191224600	Weak transcription	NH-A	brain
33	chr2:191210000-191213200	Weak transcription	Brain Substantia Nigra	brain
34	chr2:191210000-191215000	Weak transcription	Brain Angular Gyrus	brain
35	chr2:191210000-191215000	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:191210000-191215200	Weak transcription	Right Atrium	heart
37	chr2:191210000-191216600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:191210000-191217200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:191210000-191218600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:191210000-191220800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr2:191210000-191221000	Weak transcription	Adipose Nuclei	Adipose
42	chr2:191210000-191223600	Weak transcription	Osteobl	bone
43	chr2:191210000-191224400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:191210200-191216200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:191210200-191216800	Weak transcription	NHEK	skin
46	chr2:191210400-191214600	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr2:191210400-191215000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:191210400-191215000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr2:191210400-191215000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr2:191210400-191216800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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