Variant report

Variant	rs7942214
Chromosome Location	chr11:45206614-45206615
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45164160..45171283-chr11:45198764..45207868,26	MCF-7	breast:
2	chr11:45201434..45203810-chr11:45205775..45209200,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSPAN18-4	chr11:45206397-45206646	l_468_chr11:45206396-45213223_heart

Variant related genes	Relation type
ENSG00000019485	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10742744	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10742745	0.86[ASN][1000 genomes]
rs10742746	0.97[ASN][1000 genomes]
rs1078930	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838426	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11038356	0.87[EUR][1000 genomes]
rs11038361	0.87[EUR][1000 genomes]
rs12281438	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2863159	0.98[ASN][1000 genomes]
rs3758722	0.87[EUR][1000 genomes]
rs3758728	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3781706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4755948	0.87[EUR][1000 genomes]
rs6416128	0.87[EUR][1000 genomes]
rs6485594	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6485595	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6485596	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6485597	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6485598	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6485599	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6485601	0.87[EUR][1000 genomes]
rs6485602	0.87[EUR][1000 genomes]
rs746555	0.87[EUR][1000 genomes]
rs7937949	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7942347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945018	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825852	chr11:45141386-45228580	Bivalent/Poised TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45202000-45207600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr11:45202000-45220000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:45202800-45234000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:45203000-45208400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:45203000-45209600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:45203000-45213400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:45203000-45237000	Weak transcription	Small Intestine	intestine
8	chr11:45203200-45208400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:45203200-45209600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:45203200-45211000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:45203200-45212400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:45203200-45213000	Weak transcription	HSMM	muscle
13	chr11:45203200-45215200	Weak transcription	Psoas Muscle	Psoas
14	chr11:45203400-45206800	Enhancers	Fetal Heart	heart
15	chr11:45203400-45207200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:45203400-45209000	Weak transcription	Brain Angular Gyrus	brain
17	chr11:45203400-45209600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:45203400-45209600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr11:45203400-45209600	Weak transcription	Fetal Brain Male	brain
20	chr11:45203400-45210000	Weak transcription	NHLF	lung
21	chr11:45203400-45215200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:45203400-45217600	Weak transcription	NH-A	brain
23	chr11:45203400-45221200	Weak transcription	NHEK	skin
24	chr11:45203400-45230400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:45203400-45231000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:45203600-45210000	Strong transcription	Brain Germinal Matrix	brain
27	chr11:45203600-45210800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr11:45203600-45210800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr11:45203600-45211600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:45203600-45226200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:45203600-45231000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr11:45203800-45206800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr11:45203800-45206800	Genic enhancers	Right Ventricle	heart
34	chr11:45203800-45207200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:45203800-45207200	Genic enhancers	Fetal Intestine Large	intestine
36	chr11:45203800-45210200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr11:45203800-45210400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:45203800-45210800	Strong transcription	Brain Cingulate Gyrus	brain
39	chr11:45203800-45212600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:45204000-45207000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr11:45204000-45210400	Strong transcription	Fetal Brain Female	brain
42	chr11:45204200-45208200	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:45204400-45209600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:45204400-45211600	Strong transcription	Ovary	ovary
45	chr11:45204400-45211800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:45204400-45213400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:45204600-45209000	Strong transcription	Primary B cells from cord blood	blood
48	chr11:45204600-45209000	Strong transcription	Spleen	Spleen
49	chr11:45204600-45210200	Strong transcription	Brain Anterior Caudate	brain
50	chr11:45204600-45210400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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