Variant report

Variant	rs11540284
Chromosome Location	chr7:140372889-140372890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:140372380-140373159	Hela-S3	cervix:	n/a	n/a
2	ELF1	chr7:140372631-140373015	K562	blood:	n/a	chr7:140372797-140372809
3	POLR2A	chr7:140372526-140373472	H1-neurons	neurons:	n/a	n/a
4	MAX	chr7:140372431-140373722	H1-hESC	embryonic stem cell:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
5	POLR2A	chr7:140372420-140373536	GM12878	blood:	n/a	n/a
6	CEBPD	chr7:140372637-140372956	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:140372433-140373614	HCT-116	colon:	n/a	n/a
8	YY1	chr7:140372694-140373154	GM12892	blood:	n/a	chr7:140372795-140372806 chr7:140372814-140372828
9	POLR2A	chr7:140372586-140373645	K562	blood:	n/a	n/a
10	POLR2A	chr7:140372447-140373749	HEK293	kidney:	n/a	n/a
11	POLR2A	chr7:140372699-140373380	A549	lung:	n/a	n/a
12	HDAC2	chr7:140372651-140372993	K562	blood:	n/a	chr7:140372813-140372822
13	UBTF	chr7:140372857-140373487	K562	blood:	n/a	n/a
14	POLR2A	chr7:140372695-140373225	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr7:140372572-140373509	K562	blood:	n/a	n/a
16	CTCFL	chr7:140372871-140373244	K562	blood:	n/a	n/a
17	E2F6	chr7:140372716-140373299	A549	lung:	n/a	chr7:140372848-140372858 chr7:140372998-140373013
18	E2F6	chr7:140372447-140373554	K562	blood:	n/a	chr7:140372848-140372858 chr7:140372998-140373013
19	SIN3AK20	chr7:140372715-140373204	K562	blood:	n/a	n/a
20	MAZ	chr7:140372359-140373651	GM12878	blood:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
21	ELF1	chr7:140372574-140374124	GM12878	blood:	n/a	chr7:140372797-140372809
22	POLR2A	chr7:140372427-140373802	MCF-7	breast:	n/a	n/a
23	ZEB1	chr7:140372503-140374016	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:140372684-140373425	A549	lung:	n/a	n/a
25	POLR2A	chr7:140372685-140372947	A549	lung:	n/a	n/a
26	HEY1	chr7:140372670-140373439	K562	blood:	n/a	chr7:140372788-140372803 chr7:140372809-140372824
27	POLR2A	chr7:140372677-140373622	GM12892	blood:	n/a	n/a
28	MAZ	chr7:140372063-140373834	K562	blood:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
29	HEY1	chr7:140372765-140373145	K562	blood:	n/a	chr7:140372788-140372803 chr7:140372809-140372824
30	POLR2A	chr7:140372665-140373748	HCT-116	colon:	n/a	n/a
31	TCF3	chr7:140372718-140373393	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:140372437-140373543	GM12878	blood:	n/a	n/a
33	NR2F2	chr7:140372507-140373810	MCF-7	breast:	n/a	n/a
34	MAX	chr7:140372607-140373664	GM12878	blood:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
35	POLR2A	chr7:140372649-140372999	PFSK-1	brain:	n/a	n/a
36	ZBTB7A	chr7:140372495-140373469	K562	blood:	n/a	n/a
37	MYC	chr7:140372576-140373625	K562	blood:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
38	MAX	chr7:140372457-140373758	MCF-7	breast:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
39	TCF12	chr7:140372718-140373613	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr7:140372717-140373731	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr7:140372668-140373483	K562	blood:	n/a	n/a
42	POLR2A	chr7:140372402-140373583	GM12892	blood:	n/a	n/a
43	TAF1	chr7:140372453-140373594	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr7:140372379-140374681	Raji	blood:	n/a	n/a
45	YY1	chr7:140372708-140373323	K562	blood:	n/a	chr7:140372795-140372806 chr7:140372814-140372828
46	POLR2A	chr7:140372662-140373063	U87	brain:	n/a	n/a
47	MAX	chr7:140372632-140373551	K562	blood:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
48	POLR2A	chr7:140372643-140372890	HepG2	liver:	n/a	n/a
49	HMGN3	chr7:140372473-140373679	K562	blood:	n/a	n/a
50	MAX	chr7:140372473-140373726	ECC-1	luminal epithelium:	n/a	chr7:140372802-140372812 chr7:140372990-140373000

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:140372864-140372914	HRCEpiC	kidney:	n/a
2	chr7:140372864-140372914	T-47D	breast:	n/a
3	chr7:140372864-140372914	PrEC	prostate:	n/a
4	chr7:140372864-140372914	HIPEpiC	eye:	n/a
5	chr7:140372864-140372914	HAEpiC	amniotic membrane:	n/a
6	chr7:140372864-140372914	HPAEpiC	pulmonary alveolar:	n/a
7	chr7:140372864-140372914	PANC-1	pancreas:	n/a
8	chr7:140372864-140372914	K562	blood:	n/a
9	chr7:140372864-140372914	Jurkat	blood:	n/a
10	chr7:140372864-140372914	NB4	blood:	n/a
11	chr7:140372864-140372914	SAEC	small airway:	n/a
12	chr7:140372864-140372914	GM12892	blood:	n/a
13	chr7:140372864-140372914	HCT-116	colon:	n/a
14	chr7:140372864-140372914	GM12878	blood:	n/a
15	chr7:140372864-140372914	HRPEpiC	eye:	n/a
16	chr7:140372864-140372914	AG04449	skin:	fetal
17	chr7:140372864-140372914	GM06990	blood:	n/a
18	chr7:140372864-140372914	HUVEC	blood vessel:	n/a
19	chr7:140372864-140372914	LNCaP	prostate:	n/a
20	chr7:140372864-140372914	Hepatocyte	liver:	n/a
21	chr7:140372864-140372914	PFSK-1	brain:	n/a
22	chr7:140372864-140372914	HepG2	liver:	n/a
23	chr7:140372864-140372914	NH-A	brain:	n/a
24	chr7:140372864-140372914	ovcar-3	ovarian:	n/a
25	chr7:140372864-140372914	A549	lung:	n/a
26	chr7:140372864-140372914	NT2-D1	testis:	n/a
27	chr7:140372864-140372914	RPTEC	kidney:	n/a
28	chr7:140372864-140372914	HNPCEpiC	eye:	n/a
29	chr7:140372864-140372914	HCF	heart:	n/a
30	chr7:140372864-140372914	HEK293	kidney:	embryo
31	chr7:140372864-140372914	AoSMC	blood vessel:	n/a
32	chr7:140372864-140372914	HEEpiC	esophagus:	n/a
33	chr7:140372864-140372914	NHDF-neo	bronchial:	n/a
34	chr7:140372864-140372914	SK-N-SH	brain:	n/a
35	chr7:140372864-140372914	HL-60	blood:	n/a
36	chr7:140372864-140372914	Hela-S3	cervix:	n/a
37	chr7:140372864-140372914	H1-hESC	embryonic stem cell:	embryo
38	chr7:140372864-140372914	AG09309	skin:	n/a
39	chr7:140372864-140372914	AG09319	gingival:	n/a
40	chr7:140372864-140372914	HCM	heart:	n/a
41	chr7:140372864-140372914	MCF10A-Er-Src	breast:	n/a
42	chr7:140372864-140372914	IMR90	lung:	fetal
43	chr7:140372864-140372914	SKMC	muscle:	n/a
44	chr7:140372864-140372914	GM12891	blood:	n/a
45	chr7:140372864-140372914	MCF-7	breast:	n/a
46	chr7:140372864-140372914	HMEC	breast:	n/a
47	chr7:140372864-140372914	NHBE	bronchial:	n/a
48	chr7:140372864-140372914	U87	brain:	n/a
49	chr7:140372864-140372914	Caco-2	colon:	n/a
50	chr7:140372864-140372914	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:140372637..140375611-chr7:140394231..140397834,5	K562	blood:
2	chr7:140370608..140383131-chr7:140387718..140398587,28	MCF-7	breast:
3	chr7:140372831..140374417-chr7:140400299..140402616,2	MCF-7	breast:
4	chr7:140371506..140376729-chr7:140377280..140380130,6	K562	blood:
5	chr7:140371560..140374067-chr7:140396511..140398663,2	K562	blood:
6	chr7:140371193..140374993-chr7:140376654..140380151,6	MCF-7	breast:
7	chr7:140370275..140375389-chr7:140393210..140401279,16	MCF-7	breast:

Variant related genes	Relation type
ADCK2	TF binding region
ADCK2	CpG island
ENSG00000133597	Chromatin interaction
ENSG00000240889	Chromatin interaction
ENSG00000090266	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1106846	0.82[EUR][1000 genomes]
rs2908235	0.82[EUR][1000 genomes]
rs2930332	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv3373922	chr7:140371933-140374031	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11540284	ADCK2	cis	Nerve Tibial	GTEx
rs11540284	ADCK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140372000-140373000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr7:140372000-140373200	Active TSS	Brain Hippocampus Middle	brain
3	chr7:140372000-140373400	Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr7:140372200-140373000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:140372200-140373000	Active TSS	Liver	Liver
6	chr7:140372200-140373000	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr7:140372200-140373000	Active TSS	Stomach Smooth Muscle	stomach
8	chr7:140372200-140373200	Active TSS	H1 Cell Line	embryonic stem cell
9	chr7:140372200-140373200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:140372200-140373200	Active TSS	Muscle Satellite Cultured Cells	--
11	chr7:140372200-140373200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:140372200-140373200	Active TSS	GM12878-XiMat	blood
13	chr7:140372200-140373400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:140372200-140373400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr7:140372200-140373400	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr7:140372200-140373400	Active TSS	Fetal Brain Female	brain
17	chr7:140372200-140373400	Active TSS	Placenta	Placenta
18	chr7:140372200-140373400	Active TSS	Right Atrium	heart
19	chr7:140372200-140373600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:140372200-140373600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:140372200-140373600	Active TSS	Brain Angular Gyrus	brain
22	chr7:140372200-140373800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:140372200-140373800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:140372200-140374000	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr7:140372400-140373000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:140372400-140373000	Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr7:140372400-140373200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:140372400-140373200	Active TSS	Primary B cells from cord blood	blood
29	chr7:140372400-140373200	Active TSS	Primary T cells fromperipheralblood	blood
30	chr7:140372400-140373200	Active TSS	Brain Germinal Matrix	brain
31	chr7:140372400-140373200	Active TSS	Colonic Mucosa	Colon
32	chr7:140372400-140373200	Active TSS	Duodenum Mucosa	Duodenum
33	chr7:140372400-140373200	Active TSS	Fetal Lung	lung
34	chr7:140372400-140373200	Active TSS	Fetal Muscle Trunk	muscle
35	chr7:140372400-140373200	Active TSS	Pancreas	Pancrea
36	chr7:140372400-140373200	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr7:140372400-140373200	Weak transcription	Stomach Mucosa	stomach
38	chr7:140372400-140373200	Active TSS	Thymus	Thymus
39	chr7:140372400-140373200	Active TSS	NH-A	brain
40	chr7:140372400-140373200	Active TSS	NHEK	skin
41	chr7:140372400-140373200	Active TSS	Osteobl	bone
42	chr7:140372400-140373400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:140372400-140373400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:140372400-140373400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:140372400-140373400	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr7:140372400-140373400	Active TSS	Brain Substantia Nigra	brain
47	chr7:140372400-140373400	Active TSS	Colon Smooth Muscle	Colon
48	chr7:140372400-140373400	Weak transcription	Fetal Heart	heart
49	chr7:140372400-140373400	Active TSS	Fetal Intestine Large	intestine
50	chr7:140372400-140373400	Active TSS	Fetal Stomach	stomach

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