Variant report

Variant	rs10221647
Chromosome Location	chr2:188389905-188389906
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:188389696..188391580-chr2:188402374..188405162,2	K562	blood:
2	chr2:188388573..188390742-chr2:188392127..188394969,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10168929	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10183377	1.00[AMR][1000 genomes]
rs10208660	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10439309	1.00[AMR][1000 genomes]
rs13389476	1.00[AMR][1000 genomes]
rs13396262	0.89[AFR][1000 genomes]
rs13396869	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13403335	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13405040	1.00[AMR][1000 genomes]
rs13412597	1.00[AMR][1000 genomes]
rs13419272	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs13422718	1.00[AMR][1000 genomes]
rs28475020	1.00[AMR][1000 genomes]
rs6723440	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6723480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8176438	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8176451	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8176458	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8176465	1.00[AMR][1000 genomes]
rs8176483	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8176486	0.92[AFR][1000 genomes]
rs8176515	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs9808448	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875559	chr2:188219052-188390112	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv875561	chr2:188226900-188440752	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv875564	chr2:188258904-188414161	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv875565	chr2:188258904-188440752	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv875566	chr2:188258904-188626214	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv875567	chr2:188258904-188673462	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv834488	chr2:188268434-188415496	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv875568	chr2:188291105-188653806	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv875576	chr2:188343497-188482933	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv875577	chr2:188343497-188500930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv875578	chr2:188343497-188690187	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv997899	chr2:188356689-188531831	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1014298	chr2:188359747-188531831	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1013166	chr2:188359747-188544803	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1014942	chr2:188360116-188480738	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv584038	chr2:188370232-188450136	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv875580	chr2:188370232-188521234	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	esv2757845	chr2:188380042-188503185	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	esv2759108	chr2:188380042-188503185	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	esv3501345	chr2:188382857-188390955	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	esv3501344	chr2:188383607-188390855	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	esv3459916	chr2:188384081-188390077	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	esv3459917	chr2:188384081-188390077	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188360600-188391600	Weak transcription	Psoas Muscle	Psoas
2	chr2:188370400-188390000	Weak transcription	Hela-S3	cervix
3	chr2:188375200-188400000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:188381800-188406000	Weak transcription	Small Intestine	intestine
5	chr2:188381800-188406600	Weak transcription	Aorta	Aorta
6	chr2:188382600-188391600	Weak transcription	Ovary	ovary
7	chr2:188382800-188390800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:188383000-188392000	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:188383400-188391200	Strong transcription	HSMM	muscle
10	chr2:188384400-188391200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:188384600-188391600	Weak transcription	Adipose Nuclei	Adipose
12	chr2:188384800-188391400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:188384800-188391600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:188385200-188391400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:188385200-188397000	Weak transcription	Pancreas	Pancrea
16	chr2:188385200-188397200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:188385200-188397200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:188385200-188406000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:188385400-188390000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:188385400-188390000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:188385400-188390200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:188385400-188390400	Weak transcription	NHLF	lung
23	chr2:188385400-188391000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:188385400-188391600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:188385400-188394000	Weak transcription	Placenta	Placenta
26	chr2:188385400-188396400	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:188385400-188397000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:188385400-188397000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:188385400-188397000	Weak transcription	Fetal Stomach	stomach
30	chr2:188385400-188397200	Weak transcription	Fetal Intestine Small	intestine
31	chr2:188385400-188397600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:188385800-188395200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:188385800-188397000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr2:188386000-188390600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:188386000-188394200	Weak transcription	K562	blood
36	chr2:188386200-188391600	Weak transcription	Fetal Lung	lung
37	chr2:188386600-188391000	Strong transcription	Primary hematopoietic stem cells	blood
38	chr2:188386800-188391400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:188387000-188397000	Weak transcription	Lung	lung
40	chr2:188387000-188406000	Weak transcription	Fetal Intestine Large	intestine
41	chr2:188387200-188391200	Weak transcription	Liver	Liver
42	chr2:188387200-188397000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:188387200-188398600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:188387200-188406000	Weak transcription	HSMMtube	muscle
45	chr2:188387400-188391000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:188387400-188391600	Weak transcription	NH-A	brain
47	chr2:188387600-188390200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:188387600-188397000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:188388000-188390000	Enhancers	HepG2	liver
50	chr2:188388200-188390000	Weak transcription	Muscle Satellite Cultured Cells	--

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