Variant report

Variant	rs11937029
Chromosome Location	chr4:7916123-7916124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11932600	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12641498	0.86[YRI][hapmap]
rs13139805	0.87[YRI][hapmap]
rs16841396	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17770447	0.93[YRI][hapmap]
rs1878325	0.93[YRI][hapmap]
rs6848540	0.87[YRI][hapmap]

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	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7899800-7930600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:7907800-7935800	Weak transcription	Right Ventricle	heart
3	chr4:7909200-7925400	Weak transcription	Hela-S3	cervix
4	chr4:7911200-7917000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr4:7911400-7917400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr4:7912000-7918000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:7912000-7931200	Weak transcription	Aorta	Aorta
8	chr4:7912600-7917000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr4:7912600-7917200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr4:7912800-7931200	Weak transcription	Gastric	stomach
11	chr4:7913000-7927600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:7913000-7930600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:7913000-7931000	Weak transcription	Fetal Intestine Large	intestine
14	chr4:7913200-7917400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:7913200-7918200	Weak transcription	Colonic Mucosa	Colon
16	chr4:7913200-7919400	Weak transcription	Right Atrium	heart
17	chr4:7913200-7919600	Weak transcription	Lung	lung
18	chr4:7913200-7926400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:7913400-7917800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr4:7913400-7918200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:7913400-7918800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:7913400-7919800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr4:7913600-7916400	Enhancers	A549	lung
24	chr4:7913600-7918000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr4:7913600-7926200	Weak transcription	Fetal Brain Female	brain
26	chr4:7913600-7927200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:7913600-7930400	Weak transcription	NHEK	skin
28	chr4:7913800-7919600	Weak transcription	Adipose Nuclei	Adipose
29	chr4:7913800-7925600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:7914000-7917000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:7914000-7917200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr4:7914000-7917200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:7914000-7917800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:7914000-7917800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:7914000-7917800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:7914000-7918400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:7914000-7919200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:7914000-7919400	Weak transcription	Fetal Intestine Small	intestine
39	chr4:7914000-7926800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:7914200-7917000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:7914200-7917000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr4:7914200-7917000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr4:7914200-7917000	Weak transcription	NH-A	brain
44	chr4:7914200-7917200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr4:7914200-7917400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr4:7914200-7918200	Weak transcription	Brain Germinal Matrix	brain
47	chr4:7914200-7918800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:7914200-7919600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr4:7914200-7919600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:7914200-7925800	Weak transcription	HSMMtube	muscle

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