Variant report

Variant	rs4256792
Chromosome Location	chr1:193160315-193160316
allele	C/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	RAD21	chr1:193159360-193160383	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193159041..193161726-chr1:193183249..193186234,2	K562	blood:

Variant related genes	Relation type
B3GALT2	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12035543	1.00[MEX][hapmap]
rs12405677	1.00[MEX][hapmap]
rs35085540	1.00[CHD][hapmap]

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	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193140800-193161400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr1:193144200-193160400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr1:193148400-193161200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:193155400-193161400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:193155600-193178400	Weak transcription	HUVEC	blood vessel
6	chr1:193155800-193160400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:193155800-193160600	Weak transcription	Fetal Thymus	thymus
8	chr1:193155800-193161200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:193155800-193161200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr1:193155800-193161400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:193155800-193161400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:193155800-193161400	Weak transcription	Thymus	Thymus
13	chr1:193155800-193161600	Weak transcription	Primary B cells from cord blood	blood
14	chr1:193155800-193161600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:193155800-193175000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:193155800-193183000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
18	chr1:193156000-193161800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:193156000-193161800	Weak transcription	Psoas Muscle	Psoas
20	chr1:193156000-193167400	Weak transcription	Ovary	ovary
21	chr1:193156000-193175400	Weak transcription	HMEC	breast
22	chr1:193156200-193160400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:193156200-193161400	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:193156200-193174600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:193156200-193175400	Weak transcription	NHEK	skin
26	chr1:193156200-193216800	Weak transcription	Aorta	Aorta
27	chr1:193156400-193161800	Weak transcription	Right Ventricle	heart
28	chr1:193156600-193161200	Weak transcription	Primary T cells from cord blood	blood
29	chr1:193156600-193161200	Weak transcription	Fetal Stomach	stomach
30	chr1:193156600-193161800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:193156600-193173000	Weak transcription	Osteobl	bone
32	chr1:193156600-193180200	Weak transcription	NH-A	brain
33	chr1:193156800-193160400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:193156800-193161400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:193157000-193161600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:193157000-193161800	Weak transcription	NHLF	lung
37	chr1:193157200-193167400	Weak transcription	Stomach Mucosa	stomach
38	chr1:193157400-193160400	Enhancers	Rectal Smooth Muscle	rectum
39	chr1:193157400-193161400	Weak transcription	Liver	Liver
40	chr1:193157400-193167200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr1:193157600-193161600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:193157600-193168400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:193157800-193161600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:193158200-193161200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:193158400-193161200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:193158400-193161400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:193158400-193161400	Weak transcription	Left Ventricle	heart
48	chr1:193158400-193161800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:193158800-193160600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:193158800-193161200	Weak transcription	Primary T cells fromperipheralblood	blood

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