Variant report

Variant	rs2240433
Chromosome Location	chr22:31003138-31003139
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:163)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:163 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr22:31002759-31003352	GM12878	blood:	n/a	n/a
2	MAZ	chr22:31002984-31003243	HepG2	liver:	n/a	n/a
3	ELF1	chr22:31003006-31003421	K562	blood:	n/a	n/a
4	JUND	chr22:31002674-31003206	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr22:31002471-31003513	HUVEC	blood vessel:	n/a	n/a
6	YY1	chr22:31002720-31003368	GM12878	blood:	n/a	n/a
7	CTCF	chr22:31003100-31003250	GM12873	blood:	n/a	n/a
8	SP4	chr22:31002502-31003158	H1-hESC	embryonic stem cell:	n/a	chr22:31002751-31002762 chr22:31002715-31002726
9	SP1	chr22:31002383-31003230	H1-hESC	embryonic stem cell:	n/a	chr22:31003148-31003162 chr22:31003147-31003159 chr22:31003148-31003158 chr22:31003144-31003153 chr22:31003148-31003157 chr22:31003143-31003152 chr22:31003147-31003159 chr22:31002751-31002762 chr22:31002715-31002726
10	CTCF	chr22:31003040-31003190	GM12874	blood:	n/a	n/a
11	POLR2A	chr22:31002632-31003514	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr22:31001849-31003651	HUVEC	blood vessel:	n/a	n/a
13	TCF3	chr22:31003121-31003495	GM12878	blood:	n/a	chr22:31003304-31003317
14	MAX	chr22:31002615-31003354	HUVEC	blood vessel:	n/a	n/a
15	USF1	chr22:31002673-31003310	SK-N-SH	brain:	n/a	n/a
16	MYC	chr22:31002536-31003352	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr22:31003020-31003170	HUVEC	blood vessel:	n/a	n/a
18	MAX	chr22:31002519-31003330	ECC-1	luminal epithelium:	n/a	n/a
19	CTCF	chr22:31003040-31003190	GM12873	blood:	n/a	n/a
20	MAX	chr22:31002555-31003250	A549	lung:	n/a	n/a
21	REST	chr22:31002402-31003757	H1-neurons	neurons:	n/a	chr22:31003257-31003270
22	PAX5	chr22:31003107-31003356	GM12878	blood:	n/a	n/a
23	USF1	chr22:31002550-31003278	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr22:31002198-31003605	H1-hESC	embryonic stem cell:	n/a	n/a
25	USF2	chr22:31002603-31003152	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr22:31002899-31003368	GM12878	blood:	n/a	n/a
27	POLR2A	chr22:31002699-31003480	GM19099	blood:	n/a	n/a
28	YY1	chr22:31002699-31003364	H1-hESC	embryonic stem cell:	n/a	n/a
29	HMGN3	chr22:31002788-31003381	K562	blood:	n/a	n/a
30	POLR2A	chr22:31002712-31003381	H1-hESC	embryonic stem cell:	n/a	n/a
31	TBP	chr22:31002859-31003281	K562	blood:	n/a	n/a
32	USF1	chr22:31002493-31003283	HCT-116	colon:	n/a	n/a
33	CTCF	chr22:31003080-31003230	AG04449	skin:	n/a	n/a
34	POLR2A	chr22:31002779-31003543	GM12878	blood:	n/a	n/a
35	CTCF	chr22:31003120-31003270	GM12864	blood:	n/a	n/a
36	CTCF	chr22:31003000-31003150	SAEC	small airway:	n/a	n/a
37	CTCF	chr22:31003120-31003270	AG04450	lung:	n/a	n/a
38	POLR2A	chr22:31002690-31003180	U87	brain:	n/a	n/a
39	CTCF	chr22:31003100-31003250	HEEpiC	esophagus:	n/a	n/a
40	TCF12	chr22:31002485-31003301	ECC-1	luminal epithelium:	n/a	n/a
41	TEAD4	chr22:31002604-31003253	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr22:31003060-31003210	GM12870	blood:	n/a	n/a
43	POLR2A	chr22:31002583-31003419	H1-neurons	neurons:	n/a	n/a
44	JUND	chr22:31002925-31003306	K562	blood:	n/a	n/a
45	RUNX3	chr22:31002968-31003540	GM12878	blood:	n/a	n/a
46	POLR2A	chr22:31002207-31003427	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr22:31003020-31003170	AoAF	blood vessel:	n/a	n/a
48	CTCF	chr22:31003060-31003210	HVMF	connective:	n/a	n/a
49	POLR2A	chr22:31002519-31003502	K562	blood:	n/a	n/a
50	CTCF	chr22:31003100-31003250	HPF	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:31003127-31003177	ovcar-3	ovarian:	n/a
2	chr22:31003127-31003177	HCF	heart:	n/a
3	chr22:31003127-31003177	SAEC	small airway:	n/a
4	chr22:31003127-31003177	HEK293	kidney:	embryo
5	chr22:31003127-31003177	HRPEpiC	eye:	n/a
6	chr22:31003127-31003177	U87	brain:	n/a
7	chr22:31003127-31003177	HCM	heart:	n/a
8	chr22:31003127-31003177	HCT-116	colon:	n/a
9	chr22:31003127-31003177	Hepatocyte	liver:	n/a
10	chr22:31003127-31003177	H1-hESC	embryonic stem cell:	embryo
11	chr22:31003127-31003177	BE2_C	brain:	n/a
12	chr22:31003127-31003177	NHBE	bronchial:	n/a
13	chr22:31003127-31003177	AG04449	skin:	fetal
14	chr22:31003127-31003177	HL-60	blood:	n/a
15	chr22:31003127-31003177	AG10803	skin:	n/a
16	chr22:31003127-31003177	AG09319	gingival:	n/a
17	chr22:31003127-31003177	PFSK-1	brain:	n/a
18	chr22:31003127-31003177	RPTEC	kidney:	n/a
19	chr22:31003127-31003177	PANC-1	pancreas:	n/a
20	chr22:31003127-31003177	MCF-7	breast:	n/a
21	chr22:31003127-31003177	NHDF-neo	bronchial:	n/a
22	chr22:31003127-31003177	GM06990	blood:	n/a
23	chr22:31003127-31003177	Caco-2	colon:	n/a
24	chr22:31003127-31003177	HNPCEpiC	eye:	n/a
25	chr22:31003127-31003177	ProgFib	skin:	n/a
26	chr22:31003127-31003177	NT2-D1	testis:	n/a
27	chr22:31003127-31003177	AoSMC	blood vessel:	n/a
28	chr22:31003127-31003177	SKMC	muscle:	n/a
29	chr22:31003127-31003177	Hela-S3	cervix:	n/a
30	chr22:31003127-31003177	T-47D	breast:	n/a
31	chr22:31003127-31003177	HAEpiC	amniotic membrane:	n/a
32	chr22:31003127-31003177	GM12878	blood:	n/a
33	chr22:31003127-31003177	SK-N-SH	brain:	n/a
34	chr22:31003127-31003177	HIPEpiC	eye:	n/a
35	chr22:31003127-31003177	GM12892	blood:	n/a
36	chr22:31003127-31003177	AG04450	lung:	fetal
37	chr22:31003127-31003177	HRE	kidney:	n/a
38	chr22:31003127-31003177	PrEC	prostate:	n/a
39	chr22:31003127-31003177	HepG2	liver:	n/a
40	chr22:31003127-31003177	GM12891	blood:	n/a
41	chr22:31003127-31003177	HRCEpiC	kidney:	n/a
42	chr22:31003127-31003177	AG09309	skin:	n/a
43	chr22:31003127-31003177	LNCaP	prostate:	n/a
44	chr22:31003127-31003177	HCPEpiC	choroid plexus:	n/a
45	chr22:31003127-31003177	NH-A	brain:	n/a
46	chr22:31003127-31003177	SK-N-SH_RA	brain:	n/a
47	chr22:31003127-31003177	NB4	blood:	n/a
48	chr22:31003127-31003177	IMR90	lung:	fetal
49	chr22:31003127-31003177	CMK	blood:	n/a
50	chr22:31003127-31003177	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31001608..31004689-chr22:31008894..31012791,3	K562	blood:
2	chr22:30987737..30989936-chr22:31002004..31003702,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCN2-1	chr22:31002672-31003173	NONHSAT084792

No data

Variant related genes	Relation type
TCN2	TF binding region
PES1	TF binding region
TCN2	CpG island
PES1	CpG island
ENSG00000185339	Chromatin interaction
ENSG00000100029	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11089465	0.81[ASN][1000 genomes]
rs5749131	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753229	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5753230	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9609017	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31001400-31003200	Enhancers	Spleen	Spleen
2	chr22:31001400-31003800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr22:31001400-31006400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr22:31001600-31003200	Active TSS	Psoas Muscle	Psoas
5	chr22:31001800-31003600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr22:31001800-31003600	Active TSS	Right Atrium	heart
7	chr22:31001800-31003800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
8	chr22:31001800-31004400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr22:31002000-31003200	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr22:31002000-31003200	Active TSS	Rectal Smooth Muscle	rectum
11	chr22:31002000-31003400	Active TSS	Fetal Brain Female	brain
12	chr22:31002000-31007000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr22:31002200-31003200	Active TSS	Brain Anterior Caudate	brain
14	chr22:31002200-31003200	Active TSS	Fetal Intestine Large	intestine
15	chr22:31002200-31003200	Active TSS	Ovary	ovary
16	chr22:31002200-31003200	Active TSS	A549	lung
17	chr22:31002200-31003400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:31002200-31003400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr22:31002200-31003400	Active TSS	Brain Angular Gyrus	brain
20	chr22:31002200-31003400	Active TSS	Brain Germinal Matrix	brain
21	chr22:31002200-31003400	Active TSS	Colon Smooth Muscle	Colon
22	chr22:31002200-31003600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr22:31002200-31003600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr22:31002200-31003600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr22:31002200-31003600	Flanking Active TSS	Fetal Muscle Trunk	muscle
26	chr22:31002200-31003800	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr22:31002200-31003800	Active TSS	Right Ventricle	heart
28	chr22:31002200-31004400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr22:31002200-31004800	Weak transcription	Hela-S3	cervix
30	chr22:31002200-31005000	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr22:31002400-31003200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr22:31002400-31003200	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr22:31002400-31003200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr22:31002400-31003200	Active TSS	Aorta	Aorta
35	chr22:31002400-31003200	Active TSS	Brain Hippocampus Middle	brain
36	chr22:31002400-31003200	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr22:31002400-31003200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr22:31002400-31003200	Active TSS	Fetal Lung	lung
39	chr22:31002400-31003200	Active TSS	Left Ventricle	heart
40	chr22:31002400-31003200	Active TSS	Pancreas	Pancrea
41	chr22:31002400-31003200	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr22:31002400-31003200	Active TSS	HSMM	muscle
43	chr22:31002400-31003400	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr22:31002400-31003400	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr22:31002400-31003400	Active TSS	Fetal Kidney	kidney
46	chr22:31002400-31003600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr22:31002400-31003600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr22:31002400-31003600	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr22:31002400-31003800	Active TSS	Brain Cingulate Gyrus	brain
50	chr22:31002400-31003800	Active TSS	Lung	lung

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