Variant report

Variant	rs12749768
Chromosome Location	chr1:173774831-173774832
allele	A/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	KAP1	chr1:173774759-173774881	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:173769074..173771128-chr1:173771765..173774849,3	K562	blood:
2	chr1:173773167..173774884-chr1:173836032..173838221,3	MCF-7	breast:
3	chr1:173773474..173776293-chr1:173791530..173794447,3	K562	blood:

Variant related genes	Relation type
ENSG00000252357	TF binding region
ENSG00000234741	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000117593	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12117115	1.00[ASN][1000 genomes]
rs12137553	1.00[ASN][1000 genomes]
rs12138407	1.00[ASN][1000 genomes]
rs12138617	1.00[ASN][1000 genomes]
rs17346682	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34997480	1.00[ASN][1000 genomes]
rs35872531	1.00[ASN][1000 genomes]
rs55762016	1.00[ASN][1000 genomes]
rs9660185	1.00[ASN][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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173729800-173781800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:173735800-173781000	Weak transcription	Small Intestine	intestine
3	chr1:173736600-173792400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:173744800-173790200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:173745000-173792400	Weak transcription	Psoas Muscle	Psoas
6	chr1:173749200-173792600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:173749800-173777800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:173751400-173792200	Weak transcription	Fetal Kidney	kidney
9	chr1:173752600-173790000	Weak transcription	HepG2	liver
10	chr1:173752800-173777000	Weak transcription	Brain Angular Gyrus	brain
11	chr1:173753200-173792200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:173753200-173792800	Weak transcription	Esophagus	oesophagus
13	chr1:173753400-173775000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:173753400-173787800	Weak transcription	Right Ventricle	heart
15	chr1:173753400-173792600	Weak transcription	Spleen	Spleen
16	chr1:173753400-173792800	Weak transcription	Gastric	stomach
17	chr1:173753400-173792800	Weak transcription	Pancreas	Pancrea
18	chr1:173753600-173787600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:173753600-173792600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:173754200-173792200	Weak transcription	Fetal Brain Female	brain
21	chr1:173754400-173782200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:173754400-173786000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:173754400-173792600	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:173755200-173791600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:173755400-173783200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:173755400-173787400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:173755400-173787400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:173755400-173792200	Weak transcription	HSMMtube	muscle
29	chr1:173755400-173792600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:173756800-173783400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:173756800-173791800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr1:173757200-173775200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:173757400-173778800	Weak transcription	Adipose Nuclei	Adipose
34	chr1:173757400-173791800	Weak transcription	Brain Germinal Matrix	brain
35	chr1:173757600-173775000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:173758800-173792200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:173759600-173777400	Weak transcription	Liver	Liver
38	chr1:173761000-173775400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:173761000-173784200	Weak transcription	Lung	lung
40	chr1:173761000-173788000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:173761000-173792200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:173761400-173782400	Weak transcription	Fetal Heart	heart
43	chr1:173763200-173777200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:173765600-173775200	Weak transcription	Thymus	Thymus
45	chr1:173766000-173777200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:173767200-173777000	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:173767200-173780400	Strong transcription	Fetal Thymus	thymus
48	chr1:173767600-173778400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:173768000-173778600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:173768000-173780200	Weak transcription	NHEK	skin

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