Variant report

Variant	rs35656124
Chromosome Location	chr4:186732886-186732887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:80)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:80 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr4:186731927-186733042	HepG2	liver:	n/a	n/a
2	TCF3	chr4:186732708-186733145	GM12878	blood:	n/a	n/a
3	POLR2A	chr4:186732612-186733105	GM12892	blood:	n/a	n/a
4	MYBL2	chr4:186731714-186733393	HepG2	liver:	n/a	n/a
5	RAD21	chr4:186731828-186733630	HepG2	liver:	n/a	n/a
6	ZEB1	chr4:186732762-186733070	GM12878	blood:	n/a	chr4:186732967-186732976
7	FOXA1	chr4:186731797-186733386	HepG2	liver:	n/a	n/a
8	MBD4	chr4:186731741-186733527	HepG2	liver:	n/a	n/a
9	PAX5	chr4:186732627-186733725	GM12878	blood:	n/a	n/a
10	PAX5	chr4:186732763-186733175	GM12878	blood:	n/a	n/a
11	ZEB1	chr4:186732742-186733109	GM12878	blood:	n/a	chr4:186732967-186732976
12	MAX	chr4:186732450-186733693	ECC-1	luminal epithelium:	n/a	chr4:186733433-186733442
13	NFIC	chr4:186731681-186733258	HepG2	liver:	n/a	n/a
14	POLR2A	chr4:186732707-186733638	Raji	blood:	n/a	n/a
15	TBL1XR1	chr4:186732741-186733098	GM12878	blood:	n/a	n/a
16	POLR2A	chr4:186732614-186733282	GM12892	blood:	n/a	n/a
17	TCF12	chr4:186732687-186733394	ECC-1	luminal epithelium:	n/a	n/a
18	EP300	chr4:186731802-186733007	HepG2	liver:	n/a	n/a
19	MAZ	chr4:186732717-186732929	HepG2	liver:	n/a	n/a
20	TCF12	chr4:186732813-186733092	GM12878	blood:	n/a	n/a
21	GATA2	chr4:186732760-186733594	SH-SY5Y	brain:	n/a	n/a
22	YY1	chr4:186732650-186733081	HepG2	liver:	n/a	n/a
23	TCF3	chr4:186732824-186733024	GM12878	blood:	n/a	n/a
24	TCF12	chr4:186732759-186733083	GM12878	blood:	n/a	n/a
25	FOXA2	chr4:186731961-186733115	HepG2	liver:	n/a	n/a
26	POLR2A	chr4:186731667-186733545	HepG2	liver:	n/a	n/a
27	ELF1	chr4:186732748-186733103	GM12878	blood:	n/a	n/a
28	HDAC2	chr4:186731793-186733142	HepG2	liver:	n/a	n/a
29	MAFK	chr4:186732464-186732925	HepG2	liver:	n/a	n/a
30	PAX5	chr4:186732785-186733144	GM12892	blood:	n/a	n/a
31	FOXA1	chr4:186731916-186732906	HepG2	liver:	n/a	n/a
32	POLR2A	chr4:186732729-186733623	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr4:186732766-186733094	HepG2	liver:	n/a	n/a
34	REST	chr4:186732564-186733830	H1-neurons	neurons:	n/a	n/a
35	YY1	chr4:186732791-186733670	ECC-1	luminal epithelium:	n/a	chr4:186733368-186733380
36	CTCF	chr4:186732840-186732990	GM12866	blood:	n/a	n/a
37	YY1	chr4:186732718-186733629	ECC-1	luminal epithelium:	n/a	chr4:186733368-186733380
38	PAX5	chr4:186732777-186733104	GM12878	blood:	n/a	n/a
39	FOXA2	chr4:186731767-186733089	HepG2	liver:	n/a	n/a
40	KAP1	chr4:186732288-186733746	HEK293	kidney:	n/a	n/a
41	MXI1	chr4:186732216-186734018	SK-N-SH	brain:	n/a	chr4:186733427-186733442 chr4:186733429-186733444
42	MAX	chr4:186732804-186733646	HepG2	liver:	n/a	chr4:186733433-186733442
43	POLR2A	chr4:186732728-186733218	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr4:186731823-186733534	HepG2	liver:	n/a	n/a
45	YY1	chr4:186732757-186733585	GM12892	blood:	n/a	chr4:186733368-186733380
46	PAX5	chr4:186732727-186733156	GM12878	blood:	n/a	n/a
47	POLR2A	chr4:186732414-186733192	HepG2	liver:	n/a	n/a
48	PAX5	chr4:186732692-186733228	GM12891	blood:	n/a	n/a
49	POLR2A	chr4:186732687-186733373	GM19193	blood:	n/a	n/a
50	ARID3A	chr4:186731758-186733668	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:186732837-186732887	HRCEpiC	kidney:	n/a
2	chr4:186732837-186732887	HNPCEpiC	eye:	n/a
3	chr4:186732837-186732887	IMR90	lung:	fetal
4	chr4:186732837-186732887	AG09319	gingival:	n/a
5	chr4:186732837-186732887	Hepatocyte	liver:	n/a
6	chr4:186732837-186732887	HRPEpiC	eye:	n/a
7	chr4:186732837-186732887	NB4	blood:	n/a
8	chr4:186732837-186732887	ECC-1	luminal epithelium:	n/a
9	chr4:186732837-186732887	GM19239	blood:	n/a
10	chr4:186732837-186732887	SK-N-SH_RA	brain:	n/a
11	chr4:186732837-186732887	AG09309	skin:	n/a
12	chr4:186732837-186732887	NHBE	bronchial:	n/a
13	chr4:186732837-186732887	AoSMC	blood vessel:	n/a
14	chr4:186732837-186732887	PFSK-1	brain:	n/a
15	chr4:186732837-186732887	HCPEpiC	choroid plexus:	n/a
16	chr4:186732837-186732887	HCT-116	colon:	n/a
17	chr4:186732837-186732887	HPAEpiC	pulmonary alveolar:	n/a
18	chr4:186732837-186732887	HCF	heart:	n/a
19	chr4:186732837-186732887	H1-hESC	embryonic stem cell:	embryo
20	chr4:186732837-186732887	ovcar-3	ovarian:	n/a
21	chr4:186732837-186732887	SK-N-SH	brain:	n/a
22	chr4:186732837-186732887	AG04449	skin:	fetal
23	chr4:186732837-186732887	NHDF-neo	bronchial:	n/a
24	chr4:186732837-186732887	AG10803	skin:	n/a
25	chr4:186732837-186732887	HepG2	liver:	n/a
26	chr4:186732837-186732887	GM12878	blood:	n/a
27	chr4:186732837-186732887	Jurkat	blood:	n/a
28	chr4:186732837-186732887	HIPEpiC	eye:	n/a
29	chr4:186732837-186732887	HCM	heart:	n/a
30	chr4:186732837-186732887	SAEC	small airway:	n/a
31	chr4:186732837-186732887	HEEpiC	esophagus:	n/a
32	chr4:186732837-186732887	LNCaP	prostate:	n/a
33	chr4:186732837-186732887	PANC-1	pancreas:	n/a
34	chr4:186732837-186732887	SK-N-MC	brain:	n/a
35	chr4:186732837-186732887	AG04450	lung:	fetal
36	chr4:186732837-186732887	SKMC	muscle:	n/a
37	chr4:186732837-186732887	CMK	blood:	n/a
38	chr4:186732837-186732887	GM12892	blood:	n/a
39	chr4:186732837-186732887	A549	lung:	n/a
40	chr4:186732837-186732887	GM12891	blood:	n/a
41	chr4:186732837-186732887	MCF-7	breast:	n/a
42	chr4:186732837-186732887	GM06990	blood:	n/a
43	chr4:186732837-186732887	T-47D	breast:	n/a
44	chr4:186732837-186732887	NH-A	brain:	n/a
45	chr4:186732837-186732887	Caco-2	colon:	n/a
46	chr4:186732837-186732887	HMEC	breast:	n/a
47	chr4:186732837-186732887	HEK293	kidney:	embryo
48	chr4:186732837-186732887	Hela-S3	cervix:	n/a
49	chr4:186732837-186732887	ProgFib	skin:	n/a
50	chr4:186732837-186732887	HL-60	blood:	n/a

No data

Variant related genes	Relation type
SORBS2	TF binding region
SORBS2	CpG island

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1021218	1.00[ASN][1000 genomes]
rs13114689	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13122307	1.00[ASN][1000 genomes]
rs28630747	1.00[ASN][1000 genomes]
rs6831546	1.00[ASN][1000 genomes]
rs6831871	1.00[ASN][1000 genomes]
rs72709760	1.00[ASN][1000 genomes]
rs72709781	1.00[ASN][1000 genomes]
rs72718139	1.00[ASN][1000 genomes]
rs72718142	1.00[ASN][1000 genomes]
rs7660420	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv1015931	chr4:186683165-186734480	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186726400-186733600	Active TSS	Right Atrium	heart
2	chr4:186726400-186733800	Active TSS	Right Ventricle	heart
3	chr4:186728400-186734400	Active TSS	Liver	Liver
4	chr4:186728600-186733800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr4:186729600-186733200	Active TSS	Fetal Kidney	kidney
6	chr4:186729600-186733600	Active TSS	Brain Anterior Caudate	brain
7	chr4:186729800-186733600	Active TSS	Rectal Smooth Muscle	rectum
8	chr4:186729800-186733800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:186729800-186733800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr4:186730200-186733000	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr4:186730200-186733600	Active TSS	Left Ventricle	heart
12	chr4:186730200-186733600	Active TSS	Pancreas	Pancrea
13	chr4:186730200-186733600	Active TSS	Stomach Smooth Muscle	stomach
14	chr4:186730200-186733800	Active TSS	Brain Angular Gyrus	brain
15	chr4:186730200-186733800	Active TSS	Colon Smooth Muscle	Colon
16	chr4:186730200-186733800	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr4:186730400-186733400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr4:186730400-186733400	Active TSS	Fetal Thymus	thymus
19	chr4:186730400-186733800	Active TSS	Brain Hippocampus Middle	brain
20	chr4:186730400-186733800	Active TSS	Duodenum Mucosa	Duodenum
21	chr4:186730600-186733800	Active TSS	Ovary	ovary
22	chr4:186731000-186733200	Active TSS	Fetal Intestine Small	intestine
23	chr4:186731000-186733600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:186731000-186738600	Weak transcription	Aorta	Aorta
25	chr4:186731200-186733200	Active TSS	Thymus	Thymus
26	chr4:186731200-186733600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:186731200-186733600	Active TSS	Colonic Mucosa	Colon
28	chr4:186731400-186733000	Active TSS	Fetal Muscle Leg	muscle
29	chr4:186731400-186733400	Active TSS	Fetal Intestine Large	intestine
30	chr4:186731400-186733600	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr4:186731600-186733400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:186731600-186733600	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr4:186731800-186733000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:186731800-186733000	Bivalent/Poised TSS	HepG2	liver
35	chr4:186731800-186733200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:186731800-186733200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:186731800-186733200	Active TSS	Fetal Brain Male	brain
38	chr4:186731800-186733200	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr4:186731800-186733200	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr4:186731800-186733400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr4:186731800-186733400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:186731800-186733400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr4:186731800-186733400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr4:186731800-186733400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:186731800-186733400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:186731800-186733400	Active TSS	Esophagus	oesophagus
47	chr4:186731800-186733400	Active TSS	Gastric	stomach
48	chr4:186731800-186733400	Active TSS	Lung	lung
49	chr4:186731800-186733600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr4:186731800-186733600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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