Variant report

Variant	rs6746329
Chromosome Location	chr2:169706156-169706157
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:169659171..169661687-chr2:169702085..169706270,3	K562	blood:
2	chr2:169700277..169703960-chr2:169704282..169708601,6	K562	blood:

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

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

rs_ID	r²[population]
rs16856059	0.87[AFR][1000 genomes]
rs16856067	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57434161	1.00[AMR][1000 genomes]
rs57466878	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58651249	0.82[AFR][1000 genomes]
rs6742716	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73969983	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73969992	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7591036	0.89[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	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv875381	chr2:169686559-169749841	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169676600-169709600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:169683400-169717600	Weak transcription	Ovary	ovary
3	chr2:169688000-169710600	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:169689000-169721800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:169692000-169708400	Weak transcription	Colonic Mucosa	Colon
6	chr2:169693200-169707600	Weak transcription	Left Ventricle	heart
7	chr2:169693200-169708400	Weak transcription	Placenta	Placenta
8	chr2:169693400-169721400	Weak transcription	Spleen	Spleen
9	chr2:169693600-169707600	Weak transcription	Gastric	stomach
10	chr2:169693600-169711200	Weak transcription	Lung	lung
11	chr2:169693600-169721400	Weak transcription	Right Ventricle	heart
12	chr2:169693800-169706800	Weak transcription	Fetal Intestine Large	intestine
13	chr2:169694200-169708200	Weak transcription	Fetal Stomach	stomach
14	chr2:169698400-169713000	Weak transcription	Fetal Heart	heart
15	chr2:169698400-169721200	Weak transcription	Stomach Mucosa	stomach
16	chr2:169698600-169744600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:169699000-169706200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:169702000-169708200	Weak transcription	Fetal Intestine Small	intestine
19	chr2:169702200-169707400	Weak transcription	Adipose Nuclei	Adipose
20	chr2:169702200-169721200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:169702200-169733000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:169702600-169721400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:169702800-169707400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:169703200-169707200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:169703200-169713600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:169703600-169707000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr2:169703600-169714600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:169703600-169721200	Weak transcription	GM12878-XiMat	blood
29	chr2:169704000-169707600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:169704200-169707200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:169704200-169723400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:169704600-169721400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:169704800-169709800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:169705000-169707000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:169705000-169721000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:169705000-169723600	Weak transcription	Fetal Brain Female	brain
37	chr2:169705200-169706800	Weak transcription	Fetal Thymus	thymus
38	chr2:169705200-169708200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:169705200-169711400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr2:169705200-169721400	Weak transcription	Fetal Kidney	kidney
41	chr2:169705400-169706400	Weak transcription	K562	blood
42	chr2:169705600-169706800	Enhancers	Liver	Liver
43	chr2:169705800-169706400	Enhancers	Psoas Muscle	Psoas
44	chr2:169705800-169708200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:169705800-169708200	Weak transcription	Thymus	Thymus
46	chr2:169706000-169706200	Enhancers	Pancreas	Pancrea
47	chr2:169706000-169707600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:169706000-169709000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:169706000-169719000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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