Variant report

Variant	rs12331934
Chromosome Location	chr4:82349199-82349200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:82345669..82347516-chr4:82348800..82350865,2	K562	blood:
2	chr4:82342860..82344646-chr4:82347755..82350982,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10013789	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1037405	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12331490	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17615661	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28488514	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60314010	0.80[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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82339400-82350000	Weak transcription	Gastric	stomach
2	chr4:82341000-82350600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:82342600-82349600	Enhancers	Brain Cingulate Gyrus	brain
4	chr4:82342800-82349200	Enhancers	Brain Substantia Nigra	brain
5	chr4:82342800-82353000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:82342800-82366600	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:82343000-82350200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:82343000-82351400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:82343200-82350200	Weak transcription	Pancreas	Pancrea
10	chr4:82343400-82350000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:82343400-82350200	Weak transcription	Colonic Mucosa	Colon
12	chr4:82343400-82350200	Weak transcription	Right Ventricle	heart
13	chr4:82343400-82350400	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:82343600-82350000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:82344000-82350800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:82344200-82350600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr4:82344600-82349600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr4:82345400-82349400	Genic enhancers	Fetal Stomach	stomach
19	chr4:82345400-82350400	Weak transcription	Fetal Brain Female	brain
20	chr4:82345600-82352400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:82345600-82352600	Weak transcription	Dnd41	blood
22	chr4:82345600-82356000	Strong transcription	Primary B cells from cord blood	blood
23	chr4:82345600-82380600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:82345800-82350600	Weak transcription	Spleen	Spleen
25	chr4:82345800-82351600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr4:82345800-82361400	Weak transcription	Stomach Mucosa	stomach
27	chr4:82345800-82367600	Strong transcription	Liver	Liver
28	chr4:82345800-82385800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr4:82346000-82352600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr4:82346200-82352200	Strong transcription	Thymus	Thymus
31	chr4:82346200-82356000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr4:82346200-82356200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr4:82346200-82375800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr4:82346200-82381600	Strong transcription	Fetal Thymus	thymus
35	chr4:82346400-82353600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr4:82346400-82360600	Weak transcription	Fetal Kidney	kidney
37	chr4:82346400-82368000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr4:82346600-82349400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr4:82346600-82349400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr4:82346600-82350800	Strong transcription	Fetal Intestine Large	intestine
41	chr4:82346600-82353200	Strong transcription	Primary T cells from cord blood	blood
42	chr4:82346600-82380800	Strong transcription	Adipose Nuclei	Adipose
43	chr4:82346600-82386600	Weak transcription	Psoas Muscle	Psoas
44	chr4:82346600-82388400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr4:82346800-82350200	Weak transcription	Ovary	ovary
46	chr4:82346800-82352400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:82346800-82382400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr4:82347000-82349200	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr4:82347000-82351400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr4:82347000-82375600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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