Variant report

Variant	rs235368
Chromosome Location	chr21:46206995-46206996
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46204523..46207372-chr21:46207396..46209187,2	MCF-7	breast:
2	chr21:46197791..46202676-chr21:46204066..46207240,6	MCF-7	breast:
3	chr21:46204645..46207342-chr21:46215204..46218349,3	K562	blood:
4	chr21:46194639..46196817-chr21:46205284..46207754,2	K562	blood:
5	chr21:46205065..46208052-chr21:46221302..46222914,2	K562	blood:
6	chr21:46184069..46185902-chr21:46205323..46207249,2	MCF-7	breast:
7	chr21:46204105..46208556-chr21:46233916..46237563,3	K562	blood:
8	chr21:46193680..46195853-chr21:46205901..46207775,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184787	Chromatin interaction
ENSG00000236519	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs170959	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173095	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173097	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs180313	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs184634	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186848	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235274	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235291	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235292	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235293	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235335	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235336	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235350	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235355	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235359	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235364	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235365	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235367	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2570974	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34800103	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611462	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46187000-46213000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr21:46188000-46208000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr21:46188600-46208000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr21:46189000-46221000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr21:46189600-46207800	Strong transcription	Dnd41	blood
6	chr21:46190800-46209600	Weak transcription	Fetal Brain Male	brain
7	chr21:46193400-46212600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr21:46193800-46212800	Weak transcription	Psoas Muscle	Psoas
9	chr21:46195000-46211200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr21:46195000-46212600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr21:46195000-46219800	Weak transcription	Small Intestine	intestine
12	chr21:46195400-46220400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr21:46195600-46211400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr21:46196000-46211800	Weak transcription	NHLF	lung
15	chr21:46197200-46213000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr21:46197200-46220400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr21:46197400-46212800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr21:46198000-46207200	Weak transcription	NH-A	brain
19	chr21:46198400-46207200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr21:46198600-46212000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr21:46198800-46208000	Strong transcription	K562	blood
22	chr21:46198800-46211400	Weak transcription	HUVEC	blood vessel
23	chr21:46198800-46213000	Weak transcription	Brain Angular Gyrus	brain
24	chr21:46198800-46219600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr21:46198800-46220000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr21:46198800-46220000	Weak transcription	Fetal Kidney	kidney
27	chr21:46199200-46207000	Weak transcription	Osteobl	bone
28	chr21:46199800-46209400	Weak transcription	NHDF-Ad	bronchial
29	chr21:46200000-46220400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr21:46200400-46212800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr21:46200400-46218200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr21:46200600-46212800	Weak transcription	Colon Smooth Muscle	Colon
33	chr21:46200800-46207800	Strong transcription	Primary T cells from cord blood	blood
34	chr21:46201200-46220400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr21:46201400-46207200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr21:46201400-46211200	Weak transcription	Colonic Mucosa	Colon
37	chr21:46201600-46212600	Weak transcription	Gastric	stomach
38	chr21:46201600-46212800	Weak transcription	Right Atrium	heart
39	chr21:46201600-46212800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr21:46202200-46208000	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr21:46202400-46207600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr21:46202400-46219200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr21:46202600-46207200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr21:46202600-46208000	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr21:46202800-46207200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr21:46202800-46207400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr21:46203000-46207600	Strong transcription	Primary B cells from cord blood	blood
48	chr21:46203000-46207800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr21:46203200-46207800	Strong transcription	Primary B cells from peripheral blood	blood
50	chr21:46203400-46207600	Strong transcription	Duodenum Mucosa	Duodenum

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