Variant report

Variant	rs28630395
Chromosome Location	chr4:99205938-99205939
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99190154..99192070-chr4:99204116..99206455,2	K562	blood:
2	chr4:99205046..99207834-chr4:99212781..99214313,2	MCF-7	breast:
3	chr4:99180005..99182414-chr4:99204613..99206874,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10516428	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13116916	0.81[ASN][1000 genomes]
rs13130131	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2034677	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28753895	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59218679	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6827097	0.86[EUR][1000 genomes]
rs7678647	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1001570	chr4:98976239-99239838	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1004616	chr4:99085875-99308901	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv879652	chr4:99125659-99303633	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv528127	chr4:99146436-99229839	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv879653	chr4:99152631-99260423	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99184000-99210400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:99184000-99239600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:99184200-99210000	Weak transcription	HSMMtube	muscle
4	chr4:99184200-99242200	Weak transcription	A549	lung
5	chr4:99184600-99211800	Weak transcription	NHLF	lung
6	chr4:99185000-99206600	Weak transcription	NH-A	brain
7	chr4:99185400-99239400	Weak transcription	NHEK	skin
8	chr4:99186600-99210000	Weak transcription	K562	blood
9	chr4:99194000-99215400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr4:99194400-99206000	Weak transcription	Aorta	Aorta
11	chr4:99194600-99214600	Weak transcription	Liver	Liver
12	chr4:99196600-99214200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr4:99197000-99214600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:99197400-99210000	Weak transcription	Fetal Thymus	thymus
15	chr4:99197600-99210000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr4:99197600-99210000	Weak transcription	Primary T cells from cord blood	blood
17	chr4:99198400-99210000	Weak transcription	Primary B cells from cord blood	blood
18	chr4:99202800-99206200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr4:99203200-99206200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr4:99204000-99206200	Enhancers	HepG2	liver
21	chr4:99204000-99206400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:99204000-99210000	Enhancers	Dnd41	blood
23	chr4:99204200-99206000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:99204400-99206200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:99204800-99210000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr4:99204800-99210000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:99204800-99210200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr4:99204800-99226600	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:99205000-99206000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr4:99205000-99206200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:99205000-99211000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:99205000-99215400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:99205200-99210000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:99205200-99210400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:99205200-99210400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:99205400-99206200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:99205400-99206800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr4:99205400-99210000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr4:99205600-99206200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr4:99205600-99206200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:99205600-99206200	Enhancers	HMEC	breast
42	chr4:99205600-99206200	Enhancers	HSMM	muscle
43	chr4:99205600-99206400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr4:99205600-99206400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr4:99205800-99206000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:99205800-99206000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr4:99205800-99206000	Enhancers	Brain Substantia Nigra	brain
48	chr4:99205800-99206000	Enhancers	Pancreas	Pancrea
49	chr4:99205800-99206000	Enhancers	Right Ventricle	heart
50	chr4:99205800-99206000	Enhancers	Sigmoid Colon	Sigmoid Colon

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