Variant report

Variant	rs1693889
Chromosome Location	chr2:47375051-47375052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47369235..47375339-chr2:47401137..47405019,8	K562	blood:
2	chr2:47371591..47376509-chr2:47378415..47384832,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction
ENSG00000239605	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11683925	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1693888	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1693892	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17036311	0.85[ASN][1000 genomes]
rs17036313	0.85[ASN][1000 genomes]
rs17036316	0.85[ASN][1000 genomes]
rs17036320	0.85[ASN][1000 genomes]
rs1723485	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17484460	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2347617	0.85[ASN][1000 genomes]
rs59415749	0.91[ASN][1000 genomes]
rs6713257	0.88[ASN][1000 genomes]
rs726118	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72810414	0.91[ASN][1000 genomes]
rs72810415	0.91[ASN][1000 genomes]
rs72810419	0.88[ASN][1000 genomes]
rs72877054	0.88[ASN][1000 genomes]
rs7583684	0.91[ASN][1000 genomes]
rs815812	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv457374	chr2:47313624-47448865	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
4	nsv581754	chr2:47313624-47448865	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47355600-47377000	Weak transcription	Brain Angular Gyrus	brain
2	chr2:47357000-47385400	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:47357000-47386600	Weak transcription	Fetal Heart	heart
4	chr2:47357000-47386800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:47357200-47376400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:47357200-47376800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:47357200-47386400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:47357400-47385400	Weak transcription	Fetal Intestine Large	intestine
9	chr2:47360600-47386800	Weak transcription	Stomach Mucosa	stomach
10	chr2:47363400-47386400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:47364600-47376400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:47365000-47384000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:47365800-47375200	Strong transcription	HSMM	muscle
14	chr2:47365800-47375800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:47365800-47376400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:47366000-47377000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:47366000-47383000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr2:47366200-47397000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:47366400-47376600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:47366600-47380000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:47366800-47376800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:47366800-47399400	Strong transcription	Fetal Thymus	thymus
23	chr2:47367000-47379600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:47367000-47401200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:47367200-47379000	Strong transcription	Liver	Liver
26	chr2:47367200-47379800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr2:47367200-47381600	Strong transcription	NHDF-Ad	bronchial
28	chr2:47367200-47382200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:47367200-47383600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:47367200-47402000	Weak transcription	Esophagus	oesophagus
31	chr2:47367600-47376400	Weak transcription	Dnd41	blood
32	chr2:47367600-47376600	Weak transcription	Ovary	ovary
33	chr2:47367600-47376800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:47367600-47377000	Weak transcription	Lung	lung
35	chr2:47367600-47382200	Weak transcription	Spleen	Spleen
36	chr2:47367600-47385400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:47367600-47386800	Weak transcription	Right Ventricle	heart
38	chr2:47367600-47387400	Weak transcription	Pancreas	Pancrea
39	chr2:47368000-47376600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:47368800-47376400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:47368800-47385200	Weak transcription	Fetal Intestine Small	intestine
42	chr2:47369000-47385600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:47369200-47386800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:47369600-47384600	Weak transcription	HUVEC	blood vessel
45	chr2:47369600-47386200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:47369800-47386800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:47369800-47386800	Weak transcription	Psoas Muscle	Psoas
48	chr2:47369800-47391200	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:47370000-47379400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:47370000-47380800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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