Variant report

Variant	rs4699636
Chromosome Location	chr4:99413733-99413734
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	chr4:99413494..99416492-chr4:99418559..99420399,2	K562	blood:
2	chr4:99413602..99415848-chr4:99442433..99444375,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56226734	0.89[AMR][1000 genomes]
rs72688437	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7674194	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2763801	chr4:99094892-99413853	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99389400-99419800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr4:99396200-99431400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:99397600-99439400	Weak transcription	Primary B cells from cord blood	blood
4	chr4:99400000-99429800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:99400400-99419200	Weak transcription	Fetal Thymus	thymus
6	chr4:99402600-99422800	Weak transcription	Aorta	Aorta
7	chr4:99402600-99423600	Weak transcription	Primary T cells from cord blood	blood
8	chr4:99402600-99426800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:99404800-99419200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:99404800-99419800	Weak transcription	Spleen	Spleen
11	chr4:99405600-99431000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr4:99406800-99418600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:99408000-99432200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:99409000-99417000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:99409800-99431600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr4:99410600-99414000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr4:99411000-99418200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr4:99411400-99414000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:99411400-99414200	Enhancers	Fetal Brain Male	brain
20	chr4:99412000-99413800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:99412000-99413800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:99412000-99413800	Enhancers	NHEK	skin
23	chr4:99412200-99413800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:99412200-99413800	Enhancers	HMEC	breast
25	chr4:99412200-99414200	Enhancers	NH-A	brain
26	chr4:99412400-99413800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:99412400-99413800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:99412400-99413800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:99412400-99413800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr4:99412400-99413800	Enhancers	Osteobl	bone
31	chr4:99412600-99413800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:99412600-99414200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:99413000-99413800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:99413000-99413800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr4:99413000-99413800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr4:99413000-99413800	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr4:99413000-99413800	Enhancers	NHDF-Ad	bronchial
38	chr4:99413000-99414000	Enhancers	Brain Angular Gyrus	brain
39	chr4:99413000-99414000	Enhancers	Colon Smooth Muscle	Colon
40	chr4:99413000-99414000	Enhancers	Rectal Smooth Muscle	rectum
41	chr4:99413000-99414200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:99413000-99414200	Enhancers	Brain Germinal Matrix	brain
43	chr4:99413000-99414600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr4:99413200-99413800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:99413200-99413800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:99413200-99413800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr4:99413200-99413800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:99413200-99413800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:99413200-99413800	Enhancers	Brain Substantia Nigra	brain
50	chr4:99413200-99413800	Enhancers	Fetal Muscle Leg	muscle

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