Variant report

Variant	rs2711894
Chromosome Location	chr4:104068898-104068899
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11734396	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12502620	0.80[AMR][1000 genomes]
rs12505012	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12506575	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17217250	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17283278	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2243682	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2276974	0.80[AMR][1000 genomes]
rs2276975	0.80[AMR][1000 genomes]
rs2615538	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2615541	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2615542	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2623062	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2623063	0.91[AMR][1000 genomes]
rs2623069	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2623076	0.87[AMR][1000 genomes]
rs2623082	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2711888	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2711889	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2711891	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2711893	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2711895	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2711896	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2711900	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2711901	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2720447	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2720449	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2720450	0.83[AMR][1000 genomes]
rs2720451	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2720452	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2720453	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2720455	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2720456	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2720457	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2720463	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2720465	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2720467	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2720470	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3816642	0.82[AMR][1000 genomes]
rs4698879	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55708783	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55777543	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs68023422	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6830082	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6847142	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6847357	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72665085	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72665089	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72666813	0.80[AMR][1000 genomes]
rs7435875	0.80[AMR][1000 genomes]
rs7672974	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429917	chr4:103915319-104207455	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 target site	20 gene(s)	inside rSNPs	diseases
2	nsv830021	chr4:103934454-104100588	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1015023	chr4:104039145-104565217	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104021000-104076400	Weak transcription	Fetal Brain Female	brain
2	chr4:104021000-104089600	Weak transcription	Fetal Heart	heart
3	chr4:104021200-104076600	Weak transcription	Fetal Intestine Small	intestine
4	chr4:104021200-104100200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:104021400-104074600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:104029000-104089000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:104029800-104089000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:104030200-104089600	Weak transcription	Hela-S3	cervix
9	chr4:104031200-104069000	Weak transcription	Primary B cells from cord blood	blood
10	chr4:104038200-104095800	Strong transcription	Fetal Thymus	thymus
11	chr4:104039200-104077400	Strong transcription	Dnd41	blood
12	chr4:104044600-104070600	Weak transcription	HepG2	liver
13	chr4:104048600-104071400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:104049000-104073800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:104049000-104075200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:104049600-104078200	Weak transcription	Brain Germinal Matrix	brain
17	chr4:104049800-104074400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:104050600-104085400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:104050800-104071600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:104051000-104089200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr4:104051000-104092600	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:104051400-104089400	Weak transcription	Placenta	Placenta
23	chr4:104051600-104088800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr4:104051800-104076800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:104052000-104089200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:104052600-104088800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr4:104053200-104077400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:104054800-104069800	Weak transcription	Fetal Intestine Large	intestine
29	chr4:104055000-104073400	Weak transcription	Fetal Kidney	kidney
30	chr4:104055600-104089200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:104056800-104080000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:104057000-104069600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:104057600-104071200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr4:104058200-104118400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr4:104058800-104079400	Weak transcription	Primary T cells from cord blood	blood
36	chr4:104059200-104071800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:104059400-104087400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:104059400-104089000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:104060800-104074800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:104061000-104071000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:104061000-104071200	Strong transcription	HMEC	breast
42	chr4:104061000-104071400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:104061000-104072400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr4:104061000-104073000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr4:104061400-104071600	Strong transcription	HUVEC	blood vessel
46	chr4:104061400-104075000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:104061800-104070000	Strong transcription	NHEK	skin
48	chr4:104061800-104072400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:104062000-104069000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr4:104062800-104079400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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