Variant report

Variant	rs11937693
Chromosome Location	chr4:87938974-87938975
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87938501..87940925-chr4:87946524..87948135,2	K562	blood:
2	chr4:87938807..87941655-chr4:87943072..87944997,3	K562	blood:
3	chr4:87854648..87860283-chr4:87935219..87941983,10	K562	blood:
4	chr4:87926199..87928138-chr4:87938575..87940535,2	MCF-7	breast:
5	chr4:87938324..87940317-chr4:87979217..87981960,2	K562	blood:
6	chr4:87938104..87941655-chr4:87942635..87944997,3	K562	blood:
7	chr4:87853595..87871697-chr4:87924007..87941983,77	K562	blood:

Variant related genes	Relation type
ENSG00000163633	Chromatin interaction
ENSG00000235043	Chromatin interaction
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1048482	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012253	1.00[AMR][1000 genomes]
rs17012255	1.00[AMR][1000 genomes]
rs6810606	1.00[AMR][1000 genomes]
rs6810840	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6827682	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6851927	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs729984	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats 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
8	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87929200-87939400	Weak transcription	Gastric	stomach
2	chr4:87929400-87946200	Weak transcription	Esophagus	oesophagus
3	chr4:87930600-87940600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:87930600-87946800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:87930600-87950000	Weak transcription	Fetal Stomach	stomach
6	chr4:87930800-87940600	Weak transcription	Spleen	Spleen
7	chr4:87931000-87940800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr4:87931000-87940800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr4:87931000-87946600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:87931200-87940400	Enhancers	Primary B cells from cord blood	blood
11	chr4:87931200-87943400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr4:87931800-87942600	Enhancers	Primary hematopoietic stem cells	blood
13	chr4:87933200-87941000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:87934200-87939200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:87934200-87939200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:87934400-87940800	Enhancers	Fetal Intestine Small	intestine
17	chr4:87935200-87939200	Weak transcription	Right Ventricle	heart
18	chr4:87935200-87939400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr4:87935200-87940400	Enhancers	Liver	Liver
20	chr4:87935400-87942000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:87935600-87939000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:87935600-87941000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr4:87935600-87950200	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:87935800-87941600	Enhancers	Dnd41	blood
25	chr4:87935800-87945000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr4:87935800-87951000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr4:87936000-87939000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:87936000-87942600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:87936000-87950000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:87936400-87939000	Weak transcription	Brain Hippocampus Middle	brain
31	chr4:87936400-87941600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr4:87936400-87945000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr4:87936800-87939200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr4:87936800-87939800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:87937000-87939000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:87937000-87939000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr4:87937000-87939200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:87937000-87939400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:87937000-87946200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr4:87937000-87950400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:87937000-87951800	Weak transcription	NHEK	skin
42	chr4:87937000-87952000	Weak transcription	HMEC	breast
43	chr4:87937200-87939600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:87937400-87939000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr4:87937400-87939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:87937400-87939000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr4:87937400-87939200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr4:87937400-87939400	Weak transcription	Lung	lung
49	chr4:87937400-87939400	Weak transcription	Hela-S3	cervix
50	chr4:87937400-87940400	Weak transcription	Duodenum Mucosa	Duodenum

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