Variant report

Variant	rs74156114
Chromosome Location	chr1:210412223-210412224
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	MAFK	chr1:210411905-210412228	HepG2	liver:	n/a	n/a
2	MAFF	chr1:210411993-210412225	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210408225..210409990-chr1:210411701..210413729,2	K562	blood:
2	chr1:210411288..210415532-chr1:210545845..210548643,6	MCF-7	breast:

Variant related genes	Relation type
SERTAD4-AS1	TF binding region
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10489389	1.00[EUR][1000 genomes]
rs12088457	1.00[EUR][1000 genomes]
rs12088691	1.00[EUR][1000 genomes]
rs1342134	1.00[EUR][1000 genomes]
rs17015995	1.00[EUR][1000 genomes]
rs17015999	1.00[EUR][1000 genomes]
rs17016011	1.00[EUR][1000 genomes]
rs17276856	1.00[EUR][1000 genomes]
rs55684632	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55934820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56017967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57296511	1.00[EUR][1000 genomes]
rs57841462	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58060889	1.00[EUR][1000 genomes]
rs61384712	1.00[EUR][1000 genomes]
rs73061730	1.00[EUR][1000 genomes]
rs73061735	1.00[EUR][1000 genomes]
rs73061738	1.00[EUR][1000 genomes]
rs73071940	1.00[EUR][1000 genomes]
rs73071956	1.00[EUR][1000 genomes]
rs73071958	1.00[EUR][1000 genomes]
rs73071959	1.00[EUR][1000 genomes]
rs73071965	1.00[EUR][1000 genomes]
rs73071973	1.00[EUR][1000 genomes]
rs73074132	1.00[EUR][1000 genomes]
rs74156110	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74156112	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74156113	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74156116	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74156118	1.00[EUR][1000 genomes]
rs74156120	1.00[AMR][1000 genomes]
rs74156121	1.00[EUR][1000 genomes]
rs74156122	1.00[EUR][1000 genomes]
rs74156123	1.00[EUR][1000 genomes]
rs74156149	1.00[EUR][1000 genomes]
rs9970953	1.00[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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210407800-210424000	Weak transcription	Colonic Mucosa	Colon
2	chr1:210407800-210424000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:210407800-210424200	Weak transcription	Pancreas	Pancrea
4	chr1:210408000-210418200	Weak transcription	Esophagus	oesophagus
5	chr1:210408000-210424000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:210408200-210412600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:210408200-210414800	Enhancers	Rectal Smooth Muscle	rectum
8	chr1:210408400-210412800	Weak transcription	HMEC	breast
9	chr1:210408600-210413800	Enhancers	Fetal Heart	heart
10	chr1:210409600-210412400	Enhancers	Brain Cingulate Gyrus	brain
11	chr1:210409600-210414000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:210409600-210414200	Enhancers	NHDF-Ad	bronchial
13	chr1:210409800-210414000	Enhancers	Fetal Lung	lung
14	chr1:210409800-210414200	Enhancers	NHLF	lung
15	chr1:210410200-210413400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:210410800-210412400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:210410800-210413600	Enhancers	Adipose Nuclei	Adipose
18	chr1:210410800-210424000	Weak transcription	Lung	lung
19	chr1:210410800-210424200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:210411000-210413600	Weak transcription	Aorta	Aorta
21	chr1:210411000-210414200	Enhancers	Fetal Stomach	stomach
22	chr1:210411000-210414800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:210411200-210412600	Enhancers	HUVEC	blood vessel
24	chr1:210411200-210413800	Enhancers	Colon Smooth Muscle	Colon
25	chr1:210411200-210413800	Enhancers	NH-A	brain
26	chr1:210411200-210423600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:210411400-210414000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:210411400-210423800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:210411600-210412800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:210411600-210413600	Enhancers	Fetal Kidney	kidney
31	chr1:210411600-210413600	Weak transcription	Right Ventricle	heart
32	chr1:210411600-210413800	Weak transcription	Left Ventricle	heart
33	chr1:210411600-210414800	Enhancers	HSMM	muscle
34	chr1:210411600-210418000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:210411600-210418400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:210411800-210412800	Weak transcription	HSMMtube	muscle
37	chr1:210411800-210413200	Weak transcription	Right Atrium	heart
38	chr1:210411800-210413600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:210411800-210413800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:210411800-210414000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:210411800-210414200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr1:210411800-210422200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr1:210411800-210423600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:210411800-210423600	Weak transcription	Brain Anterior Caudate	brain
45	chr1:210411800-210423800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr1:210412000-210413000	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:210412000-210413000	Enhancers	Osteobl	bone
48	chr1:210412000-210413200	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:210412000-210413200	Weak transcription	Ovary	ovary
50	chr1:210412000-210413200	Weak transcription	Stomach Smooth Muscle	stomach

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