Variant report

Variant	rs73093391
Chromosome Location	chr2:231275470-231275471
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	chr2:231269734..231271710-chr2:231274995..231278115,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SP110-6	chr2:231275415-231277244	NONHSAT077283

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs61734774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6436931	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6712488	0.84[AFR][1000 genomes]
rs6751334	0.84[AFR][1000 genomes]
rs73093368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093372	0.84[AFR][1000 genomes]
rs73093373	0.84[AFR][1000 genomes]
rs73093379	0.84[AFR][1000 genomes]
rs73093381	0.84[AFR][1000 genomes]
rs73093383	0.84[AFR][1000 genomes]
rs73093384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73095032	1.00[AFR][1000 genomes]
rs73095042	0.92[AFR][1000 genomes]
rs73112323	0.96[AFR][1000 genomes]
rs7602520	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2751844	chr2:231179495-231280495	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv875946	chr2:231184106-231277567	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875947	chr2:231190446-231281286	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv521344	chr2:231267925-231281286	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv584671	chr2:231273229-231284556	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231220000-231275800	Weak transcription	Stomach Mucosa	stomach
2	chr2:231228800-231275600	Weak transcription	Psoas Muscle	Psoas
3	chr2:231255200-231275600	Weak transcription	HMEC	breast
4	chr2:231258800-231275600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:231264600-231275800	Weak transcription	K562	blood
6	chr2:231265000-231275600	Weak transcription	Fetal Heart	heart
7	chr2:231265600-231275600	Weak transcription	Fetal Intestine Large	intestine
8	chr2:231267600-231275800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:231268800-231275600	Weak transcription	Dnd41	blood
10	chr2:231269200-231275600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:231269200-231275800	Weak transcription	Fetal Intestine Small	intestine
12	chr2:231269800-231275600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:231270000-231276000	Enhancers	HUVEC	blood vessel
14	chr2:231270600-231275600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:231270600-231275800	Weak transcription	HSMMtube	muscle
16	chr2:231270800-231275600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:231272000-231275600	Weak transcription	Primary T cells from cord blood	blood
18	chr2:231272000-231275600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:231272000-231275800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:231272600-231275600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:231272800-231275600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr2:231272800-231275800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr2:231273200-231275600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:231273200-231275600	Enhancers	Spleen	Spleen
25	chr2:231273200-231275800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:231273200-231276000	Enhancers	Left Ventricle	heart
27	chr2:231273200-231276000	Enhancers	Right Ventricle	heart
28	chr2:231273600-231275600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:231273600-231275600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:231273600-231275600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:231273600-231275600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:231273600-231275600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:231273600-231275600	Weak transcription	Hela-S3	cervix
34	chr2:231273600-231275800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:231273600-231275800	Weak transcription	HSMM	muscle
36	chr2:231273800-231275600	Weak transcription	Osteobl	bone
37	chr2:231273800-231275800	Enhancers	Primary B cells from peripheral blood	blood
38	chr2:231273800-231275800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:231273800-231276000	Enhancers	Thymus	Thymus
40	chr2:231274000-231275600	Enhancers	Adipose Nuclei	Adipose
41	chr2:231274000-231275600	Weak transcription	Liver	Liver
42	chr2:231274000-231275600	Weak transcription	Esophagus	oesophagus
43	chr2:231274000-231275600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:231274000-231275800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:231274000-231275800	Weak transcription	Aorta	Aorta
46	chr2:231274000-231275800	Weak transcription	Gastric	stomach
47	chr2:231274000-231275800	Weak transcription	Ovary	ovary
48	chr2:231274000-231275800	Weak transcription	NH-A	brain
49	chr2:231274200-231275600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:231274200-231275600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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