Variant report

Variant	rs35052149
Chromosome Location	chr1:192780268-192780269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16834613	1.00[EUR][1000 genomes]
rs2146608	1.00[AFR][1000 genomes]
rs4658073	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72736655	1.00[AFR][1000 genomes]
rs74130418	1.00[EUR][1000 genomes]
rs74130421	1.00[EUR][1000 genomes]
rs74130422	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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192776200-192780600	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr1:192776400-192780600	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr1:192776400-192780600	Active TSS	Aorta	Aorta
4	chr1:192776400-192781200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr1:192777000-192781200	ZNF genes & repeats	Fetal Brain Male	brain
6	chr1:192777600-192780400	Active TSS	Fetal Stomach	stomach
7	chr1:192778000-192781200	Active TSS	Right Atrium	heart
8	chr1:192778200-192780600	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr1:192778200-192781200	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
10	chr1:192778600-192781200	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
11	chr1:192778600-192781400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
12	chr1:192778600-192781800	Transcr. at gene 5' and 3'	Fetal Lung	lung
13	chr1:192778800-192781200	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
14	chr1:192778800-192782200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
15	chr1:192779000-192780600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:192779000-192780600	Weak transcription	HepG2	liver
17	chr1:192779000-192780800	Weak transcription	Gastric	stomach
18	chr1:192779000-192781200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
19	chr1:192779000-192784800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:192779200-192780400	Flanking Active TSS	Fetal Intestine Small	intestine
21	chr1:192779200-192780400	Enhancers	GM12878-XiMat	blood
22	chr1:192779200-192782000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:192779200-192783000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:192779200-192783800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:192779400-192780400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:192779400-192780800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr1:192779400-192781200	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
28	chr1:192779400-192781400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:192779400-192781400	Weak transcription	Primary T cells from cord blood	blood
30	chr1:192779400-192781600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:192779400-192781600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:192779400-192782800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:192779400-192790800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:192779600-192780400	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr1:192779600-192780600	Active TSS	Brain Anterior Caudate	brain
36	chr1:192779600-192781000	Transcr. at gene 5' and 3'	HSMMtube	muscle
37	chr1:192779600-192781200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:192779600-192781400	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:192779600-192781400	Genic enhancers	HUVEC	blood vessel
40	chr1:192779600-192781600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:192779600-192781600	Weak transcription	Fetal Thymus	thymus
42	chr1:192779600-192781800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr1:192779600-192782000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr1:192779600-192782200	Weak transcription	Liver	Liver
45	chr1:192779600-192782200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:192779600-192782600	Weak transcription	Placenta	Placenta
47	chr1:192779600-192782600	Weak transcription	Lung	lung
48	chr1:192779600-192783400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:192779600-192793200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:192779800-192780400	Active TSS	Primary T helper cells PMA-I stimulated	--

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