Variant report

Variant	rs10167528
Chromosome Location	chr2:97301648-97301649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr2:97301626-97301924	GM12878	blood:	n/a	n/a
2	RUNX3	chr2:97301519-97301930	GM12878	blood:	n/a	n/a
3	ZNF384	chr2:97301599-97301933	K562	blood:	n/a	n/a
4	RUNX3	chr2:97301575-97301886	GM12878	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97299733..97305587-chr2:97422203..97428186,8	K562	blood:
2	chr2:97300473..97305040-chr2:97425563..97430425,4	MCF-7	breast:
3	chr2:97280954..97282617-chr2:97300423..97302279,2	MCF-7	breast:
4	chr2:97262402..97266191-chr2:97301270..97305062,4	K562	blood:
5	chr2:97295918..97298197-chr2:97299685..97302124,2	MCF-7	breast:
6	chr2:97299005..97302154-chr2:97360237..97363363,3	K562	blood:
7	chr2:97299733..97305587-chr2:97425305..97429139,7	K562	blood:
8	chr2:97301549..97303722-chr2:97403763..97406916,3	K562	blood:
9	chr2:97202384..97205156-chr2:97301374..97305632,4	K562	blood:
10	chr2:97299848..97302209-chr2:97302318..97304171,2	MCF-7	breast:
11	chr2:97301517..97305285-chr2:97426115..97429843,6	MCF-7	breast:
12	chr2:97262402..97265097-chr2:97301270..97304055,2	K562	blood:

No data

Variant related genes	Relation type
KANSL3	TF binding region
ENSG00000114982	Chromatin interaction
ENSG00000196843	Chromatin interaction
ENSG00000158158	Chromatin interaction
ENSG00000114988	Chromatin interaction
ENSG00000249715	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72941221	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription 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	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS 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 miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers 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 miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers 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 miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97258200-97302800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:97285400-97302400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:97285800-97302800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:97288400-97301800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:97291000-97302000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:97292200-97301800	Weak transcription	Stomach Mucosa	stomach
7	chr2:97292200-97302400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:97292200-97302400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:97292200-97302600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:97292400-97302200	Strong transcription	Fetal Muscle Leg	muscle
11	chr2:97292800-97302000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:97293400-97302000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:97294800-97302800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:97296000-97302600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:97297200-97301800	Weak transcription	HUVEC	blood vessel
16	chr2:97297200-97302000	Weak transcription	Brain Angular Gyrus	brain
17	chr2:97297200-97302600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:97297200-97302800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:97297400-97302000	Weak transcription	Colonic Mucosa	Colon
20	chr2:97297400-97302000	Weak transcription	HMEC	breast
21	chr2:97297600-97302200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:97297800-97302800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:97298200-97302000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:97298200-97302600	Weak transcription	Gastric	stomach
25	chr2:97298400-97302000	Weak transcription	Fetal Brain Female	brain
26	chr2:97298400-97302000	Weak transcription	Right Atrium	heart
27	chr2:97298400-97302000	Weak transcription	Small Intestine	intestine
28	chr2:97298400-97302200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:97298600-97301800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:97298600-97301800	Weak transcription	Hela-S3	cervix
31	chr2:97298600-97302000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:97298600-97302200	Weak transcription	Aorta	Aorta
33	chr2:97298600-97302600	Weak transcription	Esophagus	oesophagus
34	chr2:97299400-97302000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:97299400-97302200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:97299600-97302600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:97299600-97302600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:97299800-97301800	Genic enhancers	A549	lung
39	chr2:97299800-97302000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:97299800-97302000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:97299800-97302600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:97300000-97302000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:97300200-97301800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:97300200-97302200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:97300400-97301800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:97300400-97301800	Enhancers	Fetal Heart	heart
47	chr2:97300400-97302400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:97300600-97301800	Weak transcription	Thymus	Thymus
49	chr2:97300600-97302000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:97300600-97302000	Weak transcription	Primary T cells from cord blood	blood

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