Variant report

Variant	rs2285321
Chromosome Location	chr6:30637998-30637999
allele	C/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	chr6:30634661..30668428-chr6:30680318..30698953,145	MCF-7	breast:
2	chr6:30612907..30616336-chr6:30637849..30642816,6	MCF-7	breast:
3	chr6:30636079..30638328-chr6:30640966..30643040,2	K562	blood:
4	chr6:30619664..30622989-chr6:30637917..30640970,3	MCF-7	breast:
5	chr6:30634862..30637551-chr6:30637631..30639173,2	K562	blood:
6	chr6:30577127..30589352-chr6:30620628..30648657,88	K562	blood:
7	chr6:30613067..30618740-chr6:30634507..30640371,8	K562	blood:
8	chr6:30579823..30587267-chr6:30636296..30642513,15	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000222894	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000266183	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000272540	Chromatin interaction
ENSG00000204564	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1079687	0.94[ASN][1000 genomes]
rs1109146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2075015	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2239886	0.88[ASN][1000 genomes]
rs2269702	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2269707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2284172	0.82[EUR][1000 genomes]
rs2394392	0.94[ASN][1000 genomes]
rs25497	0.82[EUR][1000 genomes]
rs28986465	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3094090	0.86[ASN][1000 genomes]
rs3132595	0.94[ASN][1000 genomes]
rs3132608	0.94[ASN][1000 genomes]
rs55810373	0.82[EUR][1000 genomes]
rs59378621	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61486053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61733213	0.88[AFR][1000 genomes]
rs6900113	0.83[AFR][1000 genomes]
rs6924270	0.88[ASN][1000 genomes]
rs6929626	0.88[ASN][1000 genomes]
rs6929698	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6931293	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6937357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7762626	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7773711	0.89[AFR][1000 genomes]
rs9295901	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9295902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9295905	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9295908	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9295909	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9461620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9461623	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9461624	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9461625	0.82[EUR][1000 genomes]
rs9468803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468807	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9468811	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9468812	0.88[AFR][1000 genomes]
rs9468813	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9468814	0.88[ASN][1000 genomes]
rs9468816	0.82[EUR][1000 genomes]
rs9468817	0.82[EUR][1000 genomes]
rs9500863	0.82[EUR][1000 genomes]
rs9500866	0.82[EUR][1000 genomes]
rs9500867	0.82[EUR][1000 genomes]
rs9501027	0.82[EUR][1000 genomes]
rs9501338	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9501481	0.88[ASN][1000 genomes]
rs9501482	0.88[ASN][1000 genomes]
rs9501483	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9501484	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][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	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases
8	nsv884094	chr6:30637998-30660611	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 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	chr6:30616200-30639800	Weak transcription	Right Atrium	heart
2	chr6:30617200-30638600	Strong transcription	Fetal Stomach	stomach
3	chr6:30617200-30638600	Strong transcription	Skeletal Muscle Male	skeletal muscle
4	chr6:30617200-30638800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:30617200-30638800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:30617200-30639000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:30617200-30639000	Strong transcription	Fetal Intestine Small	intestine
8	chr6:30617200-30639000	Strong transcription	Thymus	Thymus
9	chr6:30617400-30638400	Strong transcription	Stomach Smooth Muscle	stomach
10	chr6:30617400-30638600	Strong transcription	Fetal Thymus	thymus
11	chr6:30617400-30638800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:30617400-30639000	Strong transcription	Duodenum Mucosa	Duodenum
13	chr6:30617400-30639000	Strong transcription	Fetal Muscle Trunk	muscle
14	chr6:30617400-30639200	Strong transcription	Fetal Muscle Leg	muscle
15	chr6:30617600-30638800	Strong transcription	Primary T cells from cord blood	blood
16	chr6:30617600-30638800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:30617600-30639000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr6:30617600-30639000	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:30618000-30638600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr6:30618400-30638000	Strong transcription	Fetal Brain Female	brain
21	chr6:30618600-30638400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:30618600-30638400	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr6:30618600-30638600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:30618600-30638600	Strong transcription	Brain Cingulate Gyrus	brain
25	chr6:30618600-30638800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:30618600-30639000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:30618600-30639000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr6:30618600-30639000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:30618600-30639000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:30618600-30639000	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:30618800-30638200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr6:30618800-30638800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:30618800-30638800	Strong transcription	Adipose Nuclei	Adipose
34	chr6:30618800-30638800	Strong transcription	Brain Hippocampus Middle	brain
35	chr6:30618800-30638800	Strong transcription	Osteobl	bone
36	chr6:30619600-30638800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr6:30625000-30639000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:30625000-30639000	Strong transcription	Placenta	Placenta
39	chr6:30625400-30638800	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr6:30625600-30638400	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr6:30625600-30638800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr6:30626000-30638800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr6:30626200-30638400	Strong transcription	Liver	Liver
44	chr6:30630600-30638800	Weak transcription	Fetal Heart	heart
45	chr6:30630800-30638200	Weak transcription	Stomach Mucosa	stomach
46	chr6:30630800-30639600	Weak transcription	Small Intestine	intestine
47	chr6:30631000-30638800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr6:30632200-30638600	Strong transcription	Brain Germinal Matrix	brain
49	chr6:30632600-30639000	Strong transcription	NHLF	lung
50	chr6:30633000-30639800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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