Variant report

Variant	rs6728458
Chromosome Location	chr2:128318598-128318599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:128318000..128319961-chr2:128323554..128326504,2	K562	blood:
2	chr2:128317558..128319788-chr2:128331123..128332955,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IWS1-1	chr2:128317620-128319553	ENSG00000250457

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10165248	1.00[ASW][hapmap];0.88[LWK][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes]
rs10182619	0.83[AMR][1000 genomes]
rs10188407	0.86[YRI][hapmap];0.83[AMR][1000 genomes]
rs10208590	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13393207	0.83[AMR][1000 genomes]
rs13399362	1.00[ASW][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes]
rs13407394	0.90[AFR][1000 genomes]
rs13424229	0.88[YRI][hapmap];0.83[AMR][1000 genomes]
rs13427676	0.82[ASW][hapmap]
rs6726372	0.88[YRI][hapmap];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv998519	chr2:128292190-128352032	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1008180	chr2:128295320-128355891	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1005109	chr2:128295320-128363255	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1001939	chr2:128295320-128363608	Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1015051	chr2:128295320-128372079	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1011937	chr2:128295320-128405921	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1008294	chr2:128295320-128420654	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1007207	chr2:128295320-128429775	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv1003004	chr2:128295320-128474326	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
11	nsv1013998	chr2:128299079-128355891	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1005799	chr2:128299079-128363255	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1013925	chr2:128299079-128363648	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1001780	chr2:128299079-128364126	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv999302	chr2:128299079-128372079	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv1008457	chr2:128299079-128405921	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	nsv1009514	chr2:128299079-128420654	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
18	nsv1006421	chr2:128299079-128473079	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
19	nsv1004877	chr2:128299079-128479640	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
20	nsv875015	chr2:128305196-128495645	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
21	nsv1012655	chr2:128306660-128352032	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
22	nsv1001624	chr2:128306660-128420654	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128284600-128321200	Weak transcription	Spleen	Spleen
2	chr2:128300200-128320600	Weak transcription	Colonic Mucosa	Colon
3	chr2:128315400-128321000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:128316000-128319600	Strong transcription	Fetal Intestine Large	intestine
5	chr2:128316400-128319200	Strong transcription	Fetal Intestine Small	intestine
6	chr2:128316600-128319600	Strong transcription	Duodenum Mucosa	Duodenum
7	chr2:128317000-128318800	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr2:128317200-128319800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:128317400-128320000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:128317800-128318800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr2:128317800-128318800	Flanking Bivalent TSS/Enh	HepG2	liver
12	chr2:128317800-128318800	Enhancers	HSMMtube	muscle
13	chr2:128317800-128318800	Flanking Active TSS	Osteobl	bone
14	chr2:128317800-128319600	Enhancers	NHDF-Ad	bronchial
15	chr2:128317800-128320800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:128317800-128334200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:128318000-128318600	Enhancers	Brain Anterior Caudate	brain
18	chr2:128318000-128318800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:128318000-128318800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:128318000-128318800	Enhancers	Adipose Nuclei	Adipose
21	chr2:128318000-128318800	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:128318000-128318800	Enhancers	Brain Substantia Nigra	brain
23	chr2:128318200-128318600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:128318200-128318600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
25	chr2:128318200-128318600	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr2:128318200-128318600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr2:128318200-128318600	Enhancers	NH-A	brain
28	chr2:128318200-128319200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr2:128318200-128319200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr2:128318400-128318600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:128318400-128318800	Enhancers	Brain Hippocampus Middle	brain
32	chr2:128318400-128318800	Enhancers	HSMM	muscle
33	chr2:128318400-128319400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr2:128318400-128324000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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