Variant report

Variant	rs1345005
Chromosome Location	chr2:174051851-174051852
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	chr2:174047844..174049361-chr2:174051278..174054008,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11676760	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12693018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13030567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13031358	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13032024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1345007	1.00[YRI][hapmap]
rs1548045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1866635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2119125	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4146109	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4972396	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4972398	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4972537	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433391	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433393	1.00[AMR][1000 genomes]
rs6433394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433396	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433397	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6713429	1.00[AMR][1000 genomes]
rs6717152	1.00[YRI][hapmap]
rs6739869	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6741598	0.92[AFR][1000 genomes];1.00[AMR][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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174026000-174069000	Weak transcription	Primary B cells from cord blood	blood
2	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
3	chr2:174028400-174054600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:174030000-174052200	Weak transcription	Fetal Lung	lung
5	chr2:174037000-174053000	Weak transcription	Right Atrium	heart
6	chr2:174037400-174054600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:174045400-174052800	Weak transcription	Adipose Nuclei	Adipose
8	chr2:174046200-174054200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:174046200-174054400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:174046200-174055800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:174046400-174075800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:174046600-174055800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:174046800-174052800	Weak transcription	Fetal Intestine Small	intestine
14	chr2:174047000-174062800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:174047200-174052600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:174047600-174056400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:174047600-174060800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:174047600-174062800	Weak transcription	GM12878-XiMat	blood
19	chr2:174047800-174065800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:174048600-174095200	Weak transcription	Thymus	Thymus
21	chr2:174049000-174070600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:174049200-174053000	Weak transcription	Brain Anterior Caudate	brain
23	chr2:174049200-174053600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:174049200-174070200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:174049200-174083200	Weak transcription	Small Intestine	intestine
26	chr2:174049400-174052600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:174049400-174052600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:174049400-174052800	Weak transcription	Liver	Liver
29	chr2:174049400-174052800	Weak transcription	Ovary	ovary
30	chr2:174049400-174052800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:174049400-174053200	Weak transcription	Pancreas	Pancrea
32	chr2:174049400-174054200	Weak transcription	Fetal Intestine Large	intestine
33	chr2:174049400-174054800	Weak transcription	Dnd41	blood
34	chr2:174049400-174055800	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:174049400-174056000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:174049400-174058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:174049400-174060600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:174049400-174060800	Weak transcription	Lung	lung
39	chr2:174049400-174060800	Weak transcription	Right Ventricle	heart
40	chr2:174049400-174078200	Weak transcription	HUVEC	blood vessel
41	chr2:174049600-174052000	Enhancers	A549	lung
42	chr2:174049600-174052400	Weak transcription	NHEK	skin
43	chr2:174049600-174052600	Weak transcription	HMEC	breast
44	chr2:174049600-174052800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:174049600-174052800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:174049600-174052800	Weak transcription	HSMM	muscle
47	chr2:174049600-174052800	Weak transcription	HSMMtube	muscle
48	chr2:174049600-174053000	Weak transcription	Hela-S3	cervix
49	chr2:174049600-174056000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:174049600-174056200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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