Variant report

Variant	rs73855129
Chromosome Location	chr4:147208903-147208904
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	chr4:147207605..147209216-chr4:147213050..147215531,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1550081	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17021280	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55782738	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55853628	1.00[EUR][1000 genomes]
rs55930229	1.00[EUR][1000 genomes]
rs56099921	1.00[EUR][1000 genomes]
rs57083284	1.00[EUR][1000 genomes]
rs58863965	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59148890	1.00[EUR][1000 genomes]
rs59361076	1.00[EUR][1000 genomes]
rs59424517	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61466735	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72950636	1.00[EUR][1000 genomes]
rs73852859	1.00[EUR][1000 genomes]
rs73855113	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73855116	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73855118	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73855119	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73855120	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73855121	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73855124	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73855125	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73855141	1.00[EUR][1000 genomes]
rs73855509	1.00[EUR][1000 genomes]
rs73855522	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73855523	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3332743	chr4:147204602-147209500	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
4	esv3425492	chr4:147204802-147209400	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
5	esv3429202	chr4:147205102-147209400	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147167000-147217600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr4:147167400-147209000	Weak transcription	Ovary	ovary
3	chr4:147174400-147231200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:147174800-147218400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr4:147175400-147225400	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:147177400-147213400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr4:147179400-147217200	Weak transcription	Left Ventricle	heart
8	chr4:147179600-147214200	Weak transcription	Dnd41	blood
9	chr4:147180400-147233200	Weak transcription	Liver	Liver
10	chr4:147186600-147212800	Weak transcription	Psoas Muscle	Psoas
11	chr4:147188400-147215200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:147197400-147213200	Weak transcription	K562	blood
13	chr4:147198000-147224000	Weak transcription	Fetal Intestine Small	intestine
14	chr4:147201000-147224800	Weak transcription	HMEC	breast
15	chr4:147201000-147225400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:147201000-147249600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:147201600-147209600	Weak transcription	NH-A	brain
18	chr4:147201600-147214600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr4:147204000-147220800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:147204200-147211400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:147204600-147209800	Weak transcription	Brain Substantia Nigra	brain
22	chr4:147205600-147211600	Weak transcription	GM12878-XiMat	blood
23	chr4:147205600-147214000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:147205800-147217600	Weak transcription	Fetal Brain Female	brain
25	chr4:147206000-147216400	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:147206200-147213800	Weak transcription	Placenta	Placenta
27	chr4:147206200-147217600	Weak transcription	Fetal Brain Male	brain
28	chr4:147206200-147225400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:147206400-147210200	Strong transcription	Primary T cells from cord blood	blood
30	chr4:147206800-147209400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr4:147206800-147209400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr4:147206800-147209800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr4:147206800-147210600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:147206800-147218000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:147207000-147209400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:147207000-147209400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:147207200-147209000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:147207200-147209000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr4:147207200-147209000	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr4:147207200-147209200	Strong transcription	Fetal Lung	lung
41	chr4:147207200-147209600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr4:147207400-147209600	Strong transcription	Stomach Smooth Muscle	stomach
43	chr4:147207600-147213000	Weak transcription	HSMM	muscle
44	chr4:147207600-147216600	Weak transcription	Fetal Muscle Leg	muscle
45	chr4:147207600-147226600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr4:147208200-147209400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr4:147208200-147209400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr4:147208200-147209800	Weak transcription	Brain Angular Gyrus	brain
49	chr4:147208200-147209800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr4:147208200-147211800	Weak transcription	Fetal Intestine Large	intestine

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