Variant report

Variant	rs59979939
Chromosome Location	chr4:82351324-82351325
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:82340135..82342826-chr4:82350602..82352367,3	K562	blood:
2	chr4:82342729..82344646-chr4:82349482..82351498,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10010385	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10032184	0.94[ASN][1000 genomes]
rs11934269	0.94[ASN][1000 genomes]
rs11937878	0.94[ASN][1000 genomes]
rs1452371	1.00[ASN][1000 genomes]
rs57329549	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6845394	0.80[EUR][1000 genomes];0.94[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	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv829985	chr4:82199328-82353656	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv4404	chr4:82340986-82386148	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv829986	chr4:82345163-82509860	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82342800-82353000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:82342800-82366600	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:82343000-82351400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:82345600-82352400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:82345600-82352600	Weak transcription	Dnd41	blood
6	chr4:82345600-82356000	Strong transcription	Primary B cells from cord blood	blood
7	chr4:82345600-82380600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:82345800-82351600	Strong transcription	Duodenum Mucosa	Duodenum
9	chr4:82345800-82361400	Weak transcription	Stomach Mucosa	stomach
10	chr4:82345800-82367600	Strong transcription	Liver	Liver
11	chr4:82345800-82385800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:82346000-82352600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:82346200-82352200	Strong transcription	Thymus	Thymus
14	chr4:82346200-82356000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr4:82346200-82356200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr4:82346200-82375800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr4:82346200-82381600	Strong transcription	Fetal Thymus	thymus
18	chr4:82346400-82353600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr4:82346400-82360600	Weak transcription	Fetal Kidney	kidney
20	chr4:82346400-82368000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr4:82346600-82353200	Strong transcription	Primary T cells from cord blood	blood
22	chr4:82346600-82380800	Strong transcription	Adipose Nuclei	Adipose
23	chr4:82346600-82386600	Weak transcription	Psoas Muscle	Psoas
24	chr4:82346600-82388400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:82346800-82352400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:82346800-82382400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr4:82347000-82351400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:82347000-82375600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:82347200-82354200	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr4:82347200-82378800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:82347400-82355600	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr4:82347400-82362000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr4:82348200-82352000	Strong transcription	Fetal Intestine Small	intestine
34	chr4:82348400-82352000	Strong transcription	Lung	lung
35	chr4:82348800-82360400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:82349000-82352400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:82349000-82360600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:82349000-82361400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:82349000-82366600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr4:82349000-82367800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:82349000-82368800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr4:82349000-82374800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:82349000-82385200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr4:82349200-82353000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr4:82349200-82368000	Weak transcription	Brain Germinal Matrix	brain
46	chr4:82349400-82352600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:82349400-82352600	Weak transcription	Fetal Lung	lung
48	chr4:82349400-82357000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:82349600-82351800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr4:82349600-82352800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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