Variant report

Variant	rs73936834
Chromosome Location	chr2:55326849-55326850
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55278300..55281080-chr2:55325086..55327233,3	K562	blood:
2	chr2:55323307..55326609-chr2:55326695..55329491,3	K562	blood:
3	chr2:55312676..55314647-chr2:55325733..55328474,2	K562	blood:
4	chr2:55325626..55328074-chr2:55345685..55348277,2	K562	blood:
5	chr2:55323175..55325737-chr2:55325839..55328414,2	MCF-7	breast:
6	chr2:55326388..55330538-chr2:55335061..55337994,3	K562	blood:
7	chr2:55326463..55328844-chr2:55338475..55342420,4	K562	blood:

Variant related genes	Relation type
ENSG00000266376	Chromatin interaction
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11886358	1.00[EUR][1000 genomes]
rs11887112	1.00[EUR][1000 genomes]
rs11889466	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11890896	1.00[EUR][1000 genomes]
rs11896438	1.00[EUR][1000 genomes]
rs11902622	1.00[EUR][1000 genomes]
rs17046771	1.00[EUR][1000 genomes]
rs2968820	0.84[AFR][1000 genomes]
rs2972077	1.00[EUR][1000 genomes]
rs55735105	1.00[EUR][1000 genomes]
rs56219595	1.00[EUR][1000 genomes]
rs58016152	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60944260	1.00[EUR][1000 genomes]
rs61197615	1.00[EUR][1000 genomes]
rs6707902	1.00[EUR][1000 genomes]
rs6716121	1.00[EUR][1000 genomes]
rs6723598	1.00[EUR][1000 genomes]
rs6724153	1.00[EUR][1000 genomes]
rs6736539	1.00[EUR][1000 genomes]
rs73936831	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73936837	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73936845	1.00[EUR][1000 genomes]
rs73936947	1.00[EUR][1000 genomes]
rs73936949	1.00[EUR][1000 genomes]
rs73936959	1.00[EUR][1000 genomes]
rs7596403	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006172	chr2:55322883-55340812	Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2760568	chr2:55322895-55330350	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv2763510	chr2:55322895-55330350	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3345871	chr2:55323717-55336931	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3457756	chr2:55323755-55336917	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3457755	chr2:55323788-55336864	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3457757	chr2:55323788-55336864	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv9883	chr2:55323841-55336774	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv999212	chr2:55324276-55340812	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1004503	chr2:55324276-55343705	Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv997458	chr2:55324276-55344326	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1013316	chr2:55324276-55345262	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv2421886	chr2:55324288-55335045	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3693301	chr2:55324960-55335045	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv517331	chr2:55324960-55335045	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv817951	chr2:55324960-55335045	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55316800-55327200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr2:55318400-55329600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:55320000-55327200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:55321600-55327400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:55321600-55339400	Weak transcription	Thymus	Thymus
6	chr2:55321800-55336400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:55322600-55327200	Enhancers	HUVEC	blood vessel
8	chr2:55322600-55327800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:55322800-55327200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:55322800-55327200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:55322800-55327200	Enhancers	Adipose Nuclei	Adipose
12	chr2:55323600-55327200	Enhancers	Osteobl	bone
13	chr2:55323600-55328200	Enhancers	K562	blood
14	chr2:55323600-55330000	Enhancers	HSMM	muscle
15	chr2:55323800-55327200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:55323800-55327200	Enhancers	Dnd41	blood
17	chr2:55323800-55327400	Enhancers	NHDF-Ad	bronchial
18	chr2:55323800-55327800	Enhancers	Brain Hippocampus Middle	brain
19	chr2:55323800-55329800	Enhancers	NH-A	brain
20	chr2:55324000-55327400	Weak transcription	Lung	lung
21	chr2:55324400-55327400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:55324800-55327000	Weak transcription	Fetal Lung	lung
23	chr2:55324800-55327600	Weak transcription	Placenta	Placenta
24	chr2:55325200-55327000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:55325200-55327000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:55325200-55327200	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:55325200-55327400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr2:55325200-55327400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:55325200-55340400	Weak transcription	Gastric	stomach
30	chr2:55325400-55327000	Weak transcription	Brain Substantia Nigra	brain
31	chr2:55325400-55327000	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:55325400-55327000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:55325400-55327000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:55325400-55327000	Weak transcription	HepG2	liver
35	chr2:55325400-55327400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:55325400-55327400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr2:55325400-55330400	Weak transcription	Fetal Intestine Small	intestine
38	chr2:55326000-55327200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:55326000-55327200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr2:55326000-55328000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr2:55326200-55328400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr2:55326400-55327800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:55326400-55328000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:55326400-55328000	Enhancers	Fetal Heart	heart
45	chr2:55326400-55328000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr2:55326600-55327000	Enhancers	Fetal Thymus	thymus
47	chr2:55326600-55327000	Enhancers	Right Ventricle	heart
48	chr2:55326600-55327200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:55326600-55327200	Enhancers	Brain Anterior Caudate	brain
50	chr2:55326600-55327200	Enhancers	Right Atrium	heart

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