Variant report

Variant	rs3813234
Chromosome Location	chr2:74119927-74119928
allele	G/T
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	MAFK	chr2:74119749-74120042	HepG2	liver:	n/a	chr2:74119765-74119780
2	RAD21	chr2:74119776-74120506	IMR90	lung:	n/a	n/a
3	MAFF	chr2:74119815-74119990	HepG2	liver:	n/a	n/a
4	MAFK	chr2:74119733-74120036	HepG2	liver:	n/a	chr2:74119765-74119780
5	MAFK	chr2:74119690-74120160	IMR90	lung:	n/a	chr2:74119765-74119780
6	SRF	chr2:74119918-74120128	H1-hESC	embryonic stem cell:	n/a	chr2:74120020-74120038 chr2:74120020-74120034 chr2:74120020-74120038 chr2:74120057-74120075 chr2:74120022-74120037 chr2:74120024-74120035 chr2:74120024-74120038 chr2:74120023-74120036 chr2:74120021-74120038 chr2:74120057-74120072 chr2:74120025-74120034 chr2:74120025-74120036 chr2:74120023-74120034
7	SRF	chr2:74119752-74120232	ECC-1	luminal epithelium:	n/a	chr2:74120020-74120038 chr2:74119854-74119869 chr2:74120020-74120034 chr2:74120020-74120038 chr2:74120057-74120075 chr2:74120022-74120037 chr2:74120024-74120035 chr2:74120024-74120038 chr2:74120023-74120036 chr2:74120021-74120038 chr2:74120057-74120072 chr2:74120025-74120034 chr2:74120025-74120036 chr2:74120023-74120034
8	POLR2A	chr2:74119754-74120538	IMR90	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:74119923-74119973	T-47D	breast:	n/a
2	chr2:74119923-74119973	HCM	heart:	n/a
3	chr2:74119923-74119973	HPAEpiC	pulmonary alveolar:	n/a
4	chr2:74119923-74119973	HRCEpiC	kidney:	n/a
5	chr2:74119923-74119973	A549	lung:	n/a
6	chr2:74119923-74119973	AG04449	skin:	fetal
7	chr2:74119923-74119973	HEEpiC	esophagus:	n/a
8	chr2:74119923-74119973	NT2-D1	testis:	n/a
9	chr2:74119923-74119973	PANC-1	pancreas:	n/a
10	chr2:74119923-74119973	HL-60	blood:	n/a
11	chr2:74119923-74119973	U87	brain:	n/a
12	chr2:74119923-74119973	PrEC	prostate:	n/a
13	chr2:74119923-74119973	PFSK-1	brain:	n/a
14	chr2:74119923-74119973	SK-N-SH	brain:	n/a
15	chr2:74119923-74119973	GM12892	blood:	n/a
16	chr2:74119923-74119973	MCF-7	breast:	n/a
17	chr2:74119923-74119973	SK-N-SH_RA	brain:	n/a
18	chr2:74119923-74119973	GM12878	blood:	n/a
19	chr2:74119923-74119973	RPTEC	kidney:	n/a
20	chr2:74119923-74119973	AoSMC	blood vessel:	n/a
21	chr2:74119923-74119973	SAEC	small airway:	n/a
22	chr2:74119923-74119973	AG09319	gingival:	n/a
23	chr2:74119923-74119973	GM19239	blood:	n/a
24	chr2:74119923-74119973	Jurkat	blood:	n/a
25	chr2:74119923-74119973	K562	blood:	n/a
26	chr2:74119923-74119973	AG10803	skin:	n/a
27	chr2:74119923-74119973	HRE	kidney:	n/a
28	chr2:74119923-74119973	MCF10A-Er-Src	breast:	n/a
29	chr2:74119923-74119973	AG09309	skin:	n/a
30	chr2:74119923-74119973	HEK293	kidney:	embryo
31	chr2:74119923-74119973	NB4	blood:	n/a
32	chr2:74119923-74119973	NHDF-neo	bronchial:	n/a
33	chr2:74119923-74119973	HIPEpiC	eye:	n/a
34	chr2:74119923-74119973	CMK	blood:	n/a
35	chr2:74119923-74119973	Hepatocyte	liver:	n/a
36	chr2:74119923-74119973	HepG2	liver:	n/a
37	chr2:74119923-74119973	HUVEC	blood vessel:	n/a
38	chr2:74119923-74119973	LNCaP	prostate:	n/a
39	chr2:74119923-74119973	AG04450	lung:	fetal
40	chr2:74119923-74119973	HCPEpiC	choroid plexus:	n/a
41	chr2:74119923-74119973	H1-hESC	embryonic stem cell:	embryo
42	chr2:74119923-74119973	HCF	heart:	n/a
43	chr2:74119923-74119973	SK-N-MC	brain:	n/a
44	chr2:74119923-74119973	Caco-2	colon:	n/a
45	chr2:74119923-74119973	NHBE	bronchial:	n/a
46	chr2:74119923-74119973	ProgFib	skin:	n/a
47	chr2:74119923-74119973	SKMC	muscle:	n/a
48	chr2:74119923-74119973	GM06990	blood:	n/a
49	chr2:74119923-74119973	BE2_C	brain:	n/a
50	chr2:74119923-74119973	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:74119557..74121562-chr2:74683599..74685996,2	MCF-7	breast:

Variant related genes	Relation type
ACTG2	TF binding region
ACTG2	CpG island
ENSG00000239779	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10167667	0.93[EUR][1000 genomes]
rs10202343	0.93[EUR][1000 genomes]
rs1055888	0.93[EUR][1000 genomes]
rs11126419	0.93[EUR][1000 genomes]
rs11890369	0.94[ASN][1000 genomes]
rs11892479	0.94[ASN][1000 genomes]
rs12105840	0.90[ASN][1000 genomes]
rs3813233	1.00[ASN][1000 genomes]
rs56875063	0.82[ASN][1000 genomes]
rs59974236	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61314551	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6705766	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6714724	0.91[ASN][1000 genomes]
rs6744169	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6747730	1.00[ASN][1000 genomes]
rs6756768	0.91[ASN][1000 genomes]
rs72917405	0.93[EUR][1000 genomes]
rs72917443	1.00[ASN][1000 genomes]
rs72917445	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72917450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73948041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565869	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7581248	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7600291	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600452	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7607601	0.97[ASN][1000 genomes]

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74115000-74123600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:74117200-74121400	Weak transcription	Gastric	stomach
3	chr2:74117600-74120200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:74118000-74120400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:74118200-74123400	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:74118200-74123600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:74118600-74120200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:74118600-74120200	Weak transcription	Lung	lung
9	chr2:74118600-74128400	Weak transcription	HMEC	breast
10	chr2:74119400-74120000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr2:74119400-74120200	Enhancers	Placenta	Placenta
12	chr2:74119400-74124600	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr2:74119600-74120000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:74119600-74120000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:74119600-74120000	Enhancers	Esophagus	oesophagus
16	chr2:74119600-74120000	Enhancers	Fetal Intestine Small	intestine
17	chr2:74119600-74120000	Bivalent Enhancer	NH-A	brain
18	chr2:74119600-74120200	Flanking Active TSS	Fetal Stomach	stomach
19	chr2:74119600-74120400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:74119600-74120400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:74119600-74120400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:74119600-74120400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:74119600-74120400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:74119600-74120400	Enhancers	Fetal Muscle Leg	muscle
25	chr2:74119600-74120600	Enhancers	Fetal Muscle Trunk	muscle
26	chr2:74119600-74120800	Flanking Active TSS	NHLF	lung
27	chr2:74119600-74122800	Active TSS	Aorta	Aorta
28	chr2:74119800-74120200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:74119800-74120200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr2:74119800-74120200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:74119800-74120200	Active TSS	Ovary	ovary
32	chr2:74119800-74120400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:74119800-74120400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:74119800-74120400	Active TSS	Colon Smooth Muscle	Colon
35	chr2:74119800-74120400	Active TSS	Stomach Smooth Muscle	stomach
36	chr2:74119800-74120800	Active TSS	Rectal Smooth Muscle	rectum
37	chr2:74119800-74124800	Active TSS	Rectal Mucosa Donor 29	rectum

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