Variant report

Variant	rs60246200
Chromosome Location	chr4:151226388-151226389
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151226062..151228889-chr4:151229626..151232770,4	K562	blood:
2	chr4:151226081..151228552-chr4:151233600..151236243,3	K562	blood:
3	chr4:151226356..151227934-chr4:151233600..151235981,2	K562	blood:
4	chr4:151224130..151227039-chr4:151238410..151241620,3	K562	blood:
5	chr4:151225266..151228316-chr4:151229626..151232949,5	K562	blood:
6	chr4:151224665..151227039-chr4:151238362..151239910,2	K562	blood:

Variant related genes	Relation type
ENSG00000198589	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6816533	1.00[EUR][1000 genomes]
rs6825847	1.00[EUR][1000 genomes]
rs6841587	1.00[EUR][1000 genomes]
rs7676454	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv880257	chr4:151170387-151231371	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv880259	chr4:151210761-151367745	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv880260	chr4:151214038-151331191	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151191400-151245200	Weak transcription	Small Intestine	intestine
2	chr4:151192400-151232800	Weak transcription	Brain Substantia Nigra	brain
3	chr4:151203800-151244400	Weak transcription	Fetal Thymus	thymus
4	chr4:151204000-151244600	Weak transcription	Lung	lung
5	chr4:151204600-151236000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:151204600-151242200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr4:151205000-151236400	Weak transcription	Primary B cells from cord blood	blood
8	chr4:151205000-151272200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr4:151207200-151226600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:151207600-151241600	Weak transcription	Fetal Intestine Large	intestine
11	chr4:151208000-151230400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:151208600-151230400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr4:151210800-151231400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:151211200-151227000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:151211200-151236200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr4:151213400-151229000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr4:151213400-151242200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:151213600-151226600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:151213600-151231000	Weak transcription	Primary T cells from cord blood	blood
20	chr4:151213800-151236200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:151221800-151231200	Weak transcription	Fetal Heart	heart
22	chr4:151221800-151236200	Weak transcription	Left Ventricle	heart
23	chr4:151221800-151259600	Weak transcription	Fetal Intestine Small	intestine
24	chr4:151222200-151229000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr4:151223200-151226600	Weak transcription	A549	lung
26	chr4:151223200-151237600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:151223800-151237800	Weak transcription	Pancreas	Pancrea
28	chr4:151224000-151227200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:151224000-151259000	Weak transcription	Ovary	ovary
30	chr4:151224200-151230800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr4:151224200-151237600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr4:151224200-151244800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:151224200-151274800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr4:151224400-151226400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:151224400-151226600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:151224400-151226800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:151224400-151226800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:151224400-151227000	Weak transcription	NHDF-Ad	bronchial
39	chr4:151224400-151228400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:151224400-151232000	Weak transcription	K562	blood
41	chr4:151224400-151236000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr4:151224400-151236000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:151224400-151244600	Weak transcription	NHLF	lung
44	chr4:151224600-151226400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:151224800-151229400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr4:151225000-151241400	Weak transcription	GM12878-XiMat	blood
47	chr4:151225200-151229600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:151226000-151226400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr4:151226000-151226600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:151226000-151226800	Enhancers	Rectal Smooth Muscle	rectum

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