Variant report

Variant	rs73967990
Chromosome Location	chr2:153272195-153272196
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153265041..153269898-chr2:153270458..153273464,4	K562	blood:
2	chr2:153271973..153274703-chr2:153276491..153278675,3	MCF-7	breast:
3	chr2:153262402..153264231-chr2:153268942..153273243,3	K562	blood:
4	chr2:153264190..153266541-chr2:153270663..153273065,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13386403	0.93[EUR][1000 genomes]
rs13391023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13396439	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13397890	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13405110	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13405868	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13414887	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13418748	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13419000	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13419948	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13427076	0.84[EUR][1000 genomes]
rs13428569	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13430448	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2345873	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3811577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3890370	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56095564	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61292193	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6761815	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73967855	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73967856	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73967858	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[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	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153247400-153277600	Weak transcription	Fetal Intestine Small	intestine
2	chr2:153264200-153288200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:153264400-153274800	Enhancers	Brain Anterior Caudate	brain
4	chr2:153264400-153278000	Weak transcription	Fetal Kidney	kidney
5	chr2:153264600-153277200	Enhancers	A549	lung
6	chr2:153265200-153274800	Weak transcription	Fetal Brain Male	brain
7	chr2:153265200-153278000	Weak transcription	Fetal Lung	lung
8	chr2:153266000-153272800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:153266000-153278800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:153266200-153272600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:153266200-153279000	Enhancers	Brain Angular Gyrus	brain
12	chr2:153267000-153277000	Weak transcription	NHLF	lung
13	chr2:153267000-153278800	Enhancers	Brain Cingulate Gyrus	brain
14	chr2:153267000-153279200	Enhancers	Brain Substantia Nigra	brain
15	chr2:153268200-153277400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:153268400-153272600	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:153268600-153277000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:153268800-153274000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr2:153269200-153272200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:153269800-153272200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:153269800-153272800	Enhancers	Hela-S3	cervix
22	chr2:153269800-153279200	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr2:153270000-153274800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:153270200-153276200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:153270200-153278000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:153270200-153279800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:153270400-153275200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:153270400-153277200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:153270400-153277400	Enhancers	Brain Hippocampus Middle	brain
30	chr2:153270400-153277600	Weak transcription	Small Intestine	intestine
31	chr2:153270400-153277800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:153270600-153279800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:153270800-153272400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:153270800-153272800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:153270800-153272800	Enhancers	Pancreas	Pancrea
36	chr2:153270800-153276400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:153271000-153272600	Enhancers	Placenta	Placenta
38	chr2:153271000-153272600	Enhancers	Left Ventricle	heart
39	chr2:153271000-153272600	Enhancers	Ovary	ovary
40	chr2:153271000-153272800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:153271000-153272800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr2:153271000-153272800	Enhancers	Stomach Mucosa	stomach
43	chr2:153271000-153272800	Genic enhancers	HepG2	liver
44	chr2:153271000-153273800	Enhancers	HMEC	breast
45	chr2:153271000-153274400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:153271000-153279000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr2:153271200-153272600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:153271200-153272600	Enhancers	Aorta	Aorta
49	chr2:153271200-153272800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr2:153271200-153274200	Enhancers	Psoas Muscle	Psoas

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