Variant report

Variant	rs7533596
Chromosome Location	chr1:94348129-94348130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr1:94347498-94348150	A549	lung:	n/a	n/a
2	POLR2A	chr1:94347814-94348858	K562	blood:	n/a	n/a
3	POLR2A	chr1:94348014-94348164	A549	lung:	n/a	n/a
4	POLR2A	chr1:94347725-94348241	PFSK-1	brain:	n/a	n/a
5	JUND	chr1:94347929-94348239	A549	lung:	n/a	n/a
6	POLR2A	chr1:94343685-94350802	A549	lung:	n/a	n/a
7	POLR2A	chr1:94347933-94348166	A549	lung:	n/a	n/a
8	BCL3	chr1:94347703-94348355	A549	lung:	n/a	n/a
9	POLR2A	chr1:94347784-94348141	HepG2	liver:	n/a	n/a
10	POLR2A	chr1:94343810-94352873	K562	blood:	n/a	n/a
11	POLR2A	chr1:94348008-94348171	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:94348103-94348153	HAEpiC	amniotic membrane:	n/a
2	chr1:94348103-94348153	RPTEC	kidney:	n/a
3	chr1:94348103-94348153	MCF10A-Er-Src	breast:	n/a
4	chr1:94348103-94348153	BE2_C	brain:	n/a
5	chr1:94348103-94348153	HRCEpiC	kidney:	n/a
6	chr1:94348103-94348153	NHDF-neo	bronchial:	n/a
7	chr1:94348103-94348153	MCF-7	breast:	n/a
8	chr1:94348103-94348153	GM12892	blood:	n/a
9	chr1:94348103-94348153	GM12878	blood:	n/a
10	chr1:94348103-94348153	T-47D	breast:	n/a
11	chr1:94348103-94348153	HPAEpiC	pulmonary alveolar:	n/a
12	chr1:94348103-94348153	NH-A	brain:	n/a
13	chr1:94348103-94348153	NB4	blood:	n/a
14	chr1:94348103-94348153	HUVEC	blood vessel:	n/a
15	chr1:94348103-94348153	IMR90	lung:	fetal
16	chr1:94348103-94348153	HEK293	kidney:	embryo
17	chr1:94348103-94348153	AoSMC	blood vessel:	n/a
18	chr1:94348103-94348153	HCM	heart:	n/a
19	chr1:94348103-94348153	ECC-1	luminal epithelium:	n/a
20	chr1:94348103-94348153	K562	blood:	n/a
21	chr1:94348103-94348153	GM06990	blood:	n/a
22	chr1:94348103-94348153	AG09309	skin:	n/a
23	chr1:94348103-94348153	LNCaP	prostate:	n/a
24	chr1:94348103-94348153	PrEC	prostate:	n/a
25	chr1:94348103-94348153	CMK	blood:	n/a
26	chr1:94348103-94348153	AG04450	lung:	fetal
27	chr1:94348103-94348153	SK-N-SH	brain:	n/a
28	chr1:94348103-94348153	AG09319	gingival:	n/a
29	chr1:94348103-94348153	GM12891	blood:	n/a
30	chr1:94348103-94348153	ProgFib	skin:	n/a
31	chr1:94348103-94348153	HNPCEpiC	eye:	n/a
32	chr1:94348103-94348153	HMEC	breast:	n/a
33	chr1:94348103-94348153	SKMC	muscle:	n/a
34	chr1:94348103-94348153	NHBE	bronchial:	n/a
35	chr1:94348103-94348153	AG04449	skin:	fetal
36	chr1:94348103-94348153	NT2-D1	testis:	n/a
37	chr1:94348103-94348153	PFSK-1	brain:	n/a
38	chr1:94348103-94348153	PANC-1	pancreas:	n/a
39	chr1:94348103-94348153	H1-hESC	embryonic stem cell:	embryo
40	chr1:94348103-94348153	Jurkat	blood:	n/a
41	chr1:94348103-94348153	Caco-2	colon:	n/a
42	chr1:94348103-94348153	HL-60	blood:	n/a
43	chr1:94348103-94348153	HepG2	liver:	n/a
44	chr1:94348103-94348153	SK-N-MC	brain:	n/a
45	chr1:94348103-94348153	HCF	heart:	n/a
46	chr1:94348103-94348153	A549	lung:	n/a
47	chr1:94348103-94348153	HRPEpiC	eye:	n/a
48	chr1:94348103-94348153	SAEC	small airway:	n/a
49	chr1:94348103-94348153	ovcar-3	ovarian:	n/a
50	chr1:94348103-94348153	U87	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:94346434..94348935-chr1:94356766..94358812,2	K562	blood:
2	chr1:94342014..94348814-chr1:94369991..94376733,14	K562	blood:
3	chr1:94343582..94346281-chr1:94346551..94353410,8	MCF-7	breast:
4	chr1:94335805..94338499-chr1:94348129..94351600,3	K562	blood:

No data

Variant related genes	Relation type
DNTTIP2	TF binding region
DNTTIP2	CpG island
ENSG00000067334	Chromatin interaction
ENSG00000023909	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10874808	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874811	0.84[CHB][hapmap]
rs11165006	0.80[JPT][hapmap]
rs11165030	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11165031	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs12083303	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12122176	0.81[JPT][hapmap]
rs2064764	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391323	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391324	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs3170633	0.90[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827715	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs6667121	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6675820	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6680315	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6687387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689601	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs718875	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs7513671	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515191	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515813	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7517826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7549683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs769211	0.84[CHB][hapmap];0.82[JPT][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7533596	GCLM	cis	Thyroid	GTEx
rs7533596	GCLM	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94345000-94357000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:94345000-94374200	Weak transcription	Gastric	stomach
3	chr1:94345000-94374200	Weak transcription	Spleen	Spleen
4	chr1:94345200-94358800	Weak transcription	Left Ventricle	heart
5	chr1:94345200-94374000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:94345200-94374200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:94345400-94348600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:94345400-94353600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:94345400-94353600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:94345400-94353600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr1:94345400-94354400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr1:94345400-94356600	Weak transcription	Aorta	Aorta
13	chr1:94345400-94356800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:94345400-94357000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:94345400-94357200	Weak transcription	NHLF	lung
16	chr1:94345400-94358800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:94345400-94359200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:94345400-94361000	Weak transcription	Fetal Thymus	thymus
19	chr1:94345400-94362000	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:94345400-94364000	Weak transcription	Fetal Intestine Small	intestine
21	chr1:94345400-94369400	Weak transcription	Colonic Mucosa	Colon
22	chr1:94345400-94373200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:94345400-94373200	Weak transcription	Brain Substantia Nigra	brain
24	chr1:94345400-94373800	Weak transcription	Fetal Stomach	stomach
25	chr1:94345400-94374000	Weak transcription	Right Ventricle	heart
26	chr1:94345600-94351200	Weak transcription	Liver	Liver
27	chr1:94345600-94353600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:94345600-94353600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:94345600-94353600	Weak transcription	HepG2	liver
30	chr1:94345600-94353600	Weak transcription	NHDF-Ad	bronchial
31	chr1:94345600-94353800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:94345600-94354000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:94345600-94354200	Weak transcription	Adipose Nuclei	Adipose
34	chr1:94345600-94354400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:94345600-94354400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:94345600-94354400	Weak transcription	K562	blood
37	chr1:94345600-94356200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:94345600-94356200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr1:94345600-94356200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:94345600-94356200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:94345600-94356200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:94345600-94356200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:94345600-94357600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr1:94345600-94357800	Weak transcription	Hela-S3	cervix
45	chr1:94345600-94358400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr1:94345600-94358400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:94345600-94358600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:94345600-94358600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr1:94345600-94358600	Weak transcription	Fetal Intestine Large	intestine
50	chr1:94345600-94358600	Weak transcription	NHEK	skin

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