Variant report

Variant	rs73976541
Chromosome Location	chr2:172841213-172841214
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	chr2:172837171..172840943-chr2:172841139..172845693,4	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13385135	1.00[AMR][1000 genomes]
rs61384579	1.00[AMR][1000 genomes]
rs6746051	1.00[AMR][1000 genomes]
rs73976515	1.00[AMR][1000 genomes]
rs73976519	1.00[AMR][1000 genomes]
rs73976543	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	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv436276	chr2:172831435-172841517	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172780400-172848800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:172780600-172847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:172780600-172854200	Weak transcription	Small Intestine	intestine
4	chr2:172783600-172851000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:172796000-172855200	Weak transcription	Gastric	stomach
6	chr2:172807400-172845400	Weak transcription	Spleen	Spleen
7	chr2:172808000-172847200	Weak transcription	Fetal Brain Female	brain
8	chr2:172808000-172849400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:172810000-172862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:172811400-172846200	Weak transcription	Brain Substantia Nigra	brain
11	chr2:172811800-172852200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:172811800-172855600	Weak transcription	Fetal Heart	heart
13	chr2:172812400-172845200	Weak transcription	Colonic Mucosa	Colon
14	chr2:172813000-172859200	Weak transcription	Fetal Brain Male	brain
15	chr2:172814000-172844400	Weak transcription	Pancreas	Pancrea
16	chr2:172815400-172850000	Weak transcription	HSMMtube	muscle
17	chr2:172816800-172844200	Weak transcription	NHLF	lung
18	chr2:172817800-172845200	Weak transcription	Psoas Muscle	Psoas
19	chr2:172821000-172862800	Weak transcription	Brain Angular Gyrus	brain
20	chr2:172823000-172850400	Weak transcription	Right Ventricle	heart
21	chr2:172823200-172843600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:172823800-172842600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:172823800-172843800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr2:172823800-172844000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:172823800-172851200	Weak transcription	Fetal Kidney	kidney
26	chr2:172824000-172842600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:172824000-172857800	Weak transcription	Brain Anterior Caudate	brain
28	chr2:172824000-172857800	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:172824200-172850000	Weak transcription	NHDF-Ad	bronchial
30	chr2:172824200-172850400	Weak transcription	HMEC	breast
31	chr2:172824400-172843800	Weak transcription	NHEK	skin
32	chr2:172824400-172847200	Weak transcription	NH-A	brain
33	chr2:172825600-172842600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:172825800-172846400	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:172826200-172843200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:172826400-172848400	Weak transcription	Hela-S3	cervix
37	chr2:172828800-172841400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:172829200-172847000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:172829600-172842000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:172829800-172848000	Weak transcription	HUVEC	blood vessel
41	chr2:172830600-172842400	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:172834400-172842600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:172834400-172843200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:172834400-172843800	Weak transcription	Left Ventricle	heart
45	chr2:172834600-172843200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:172834600-172843400	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:172834800-172842600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:172835600-172843000	Weak transcription	Aorta	Aorta
49	chr2:172835800-172850200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:172836200-172842600	Weak transcription	Lung	lung

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