Variant report

Variant	rs73983657
Chromosome Location	chr2:208827467-208827468
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	chr2:208824191..208827889-chr2:208829117..208831257,3	K562	blood:
2	chr2:208824191..208827889-chr2:208829117..208831257,4	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16840112	1.00[AMR][1000 genomes]
rs55687340	1.00[AMR][1000 genomes]
rs57434067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58524730	1.00[AMR][1000 genomes]
rs59975915	1.00[AMR][1000 genomes]
rs61312965	1.00[AMR][1000 genomes]
rs73983604	1.00[AMR][1000 genomes]
rs73983605	1.00[AMR][1000 genomes]
rs73983606	1.00[AMR][1000 genomes]
rs73983639	1.00[AMR][1000 genomes]
rs73983660	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73983679	1.00[AMR][1000 genomes]
rs73983682	1.00[AMR][1000 genomes]
rs73986332	1.00[AMR][1000 genomes]
rs73986348	1.00[AMR][1000 genomes]
rs73986349	1.00[AMR][1000 genomes]
rs73986350	1.00[AMR][1000 genomes]
rs73986351	1.00[AMR][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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer 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	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208796000-208835200	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:208798800-208834200	Weak transcription	Brain Anterior Caudate	brain
3	chr2:208810400-208833600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:208810400-208841000	Weak transcription	Fetal Lung	lung
5	chr2:208811200-208835200	Weak transcription	Brain Angular Gyrus	brain
6	chr2:208815400-208835400	Weak transcription	Right Ventricle	heart
7	chr2:208815400-208840800	Weak transcription	Ovary	ovary
8	chr2:208816600-208834000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:208817000-208833000	Weak transcription	Psoas Muscle	Psoas
10	chr2:208817200-208834600	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:208819200-208834000	Weak transcription	Stomach Mucosa	stomach
12	chr2:208825200-208841400	Weak transcription	Aorta	Aorta
13	chr2:208825600-208841400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:208826000-208829200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:208826400-208827600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr2:208826400-208827600	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr2:208826400-208828000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr2:208826400-208828000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr2:208826400-208828200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
20	chr2:208826600-208827600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:208826600-208827800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr2:208826600-208828000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
23	chr2:208826600-208828000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:208826600-208828200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr2:208826600-208828200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr2:208826600-208828200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
27	chr2:208826600-208828200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:208826600-208828200	ZNF genes & repeats	Primary B cells from cord blood	blood
29	chr2:208826600-208828400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:208826600-208841400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:208826800-208827600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
32	chr2:208826800-208827600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:208826800-208828200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
34	chr2:208826800-208828200	ZNF genes & repeats	Thymus	Thymus
35	chr2:208826800-208828200	ZNF genes & repeats	Dnd41	blood
36	chr2:208826800-208828200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
37	chr2:208826800-208840800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:208827000-208827600	ZNF genes & repeats	Fetal Brain Female	brain
39	chr2:208827000-208827600	ZNF genes & repeats	Fetal Intestine Large	intestine
40	chr2:208827000-208828000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
41	chr2:208827000-208828200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:208827000-208828200	ZNF genes & repeats	Primary T cells from cord blood	blood
43	chr2:208827200-208827800	ZNF genes & repeats	Fetal Muscle Leg	muscle
44	chr2:208827200-208828000	Weak transcription	A549	lung
45	chr2:208827200-208841400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:208827200-208841400	Weak transcription	Pancreas	Pancrea
47	chr2:208827400-208828600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:208827400-208834000	Weak transcription	HepG2	liver
49	chr2:208827400-208834800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:208827400-208835200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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