Variant report

Variant	rs9641225
Chromosome Location	chr7:97737237-97737238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:97736360..97738487-chr7:97758409..97762337,3	K562	blood:
2	chr7:97735652..97737286-chr7:97753750..97756683,2	MCF-7	breast:
3	chr7:97721025..97723015-chr7:97736294..97738071,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164715	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10250231	0.88[GIH][hapmap];0.84[MEX][hapmap]
rs10274910	0.88[GIH][hapmap]
rs10278570	0.87[GIH][hapmap];0.82[MEX][hapmap]
rs10279396	0.88[GIH][hapmap]
rs12531245	1.00[ASW][hapmap];0.88[GIH][hapmap];0.83[LWK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1636515	0.83[ASN][1000 genomes]
rs17169289	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17169304	1.00[ASW][hapmap];0.88[GIH][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17169314	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17169320	0.88[GIH][hapmap]
rs17169329	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17169418	0.88[GIH][hapmap]
rs1949787	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1949788	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1971303	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3735254	0.88[GIH][hapmap]
rs57310057	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58959822	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs59042573	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs59564035	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs59583865	0.88[AFR][1000 genomes]
rs62479774	0.88[ASN][1000 genomes]
rs7807175	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7807300	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7807472	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs847569	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs9641221	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9641224	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9641226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9641231	0.88[GIH][hapmap]
rs9641232	0.88[GIH][hapmap]
rs9641233	0.88[GIH][hapmap]
rs968527	1.00[ASW][hapmap];0.88[GIH][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer 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	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1816676	chr7:97676259-97868033	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv831066	chr7:97726879-97890550	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	esv3411371	chr7:97735041-97737589	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97735400-97737400	Active TSS	Stomach Smooth Muscle	stomach
2	chr7:97735600-97737400	Active TSS	Brain Germinal Matrix	brain
3	chr7:97735800-97737400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr7:97735800-97737400	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr7:97735800-97737400	Active TSS	Thymus	Thymus
6	chr7:97735800-97738000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr7:97735800-97738000	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr7:97735800-97738000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:97735800-97738000	Active TSS	Brain Angular Gyrus	brain
10	chr7:97736000-97737400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:97736000-97737400	Active TSS	Duodenum Mucosa	Duodenum
12	chr7:97736000-97737400	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr7:97736000-97737400	Active TSS	A549	lung
14	chr7:97736000-97737400	Active TSS	HMEC	breast
15	chr7:97736000-97737400	Active TSS	HSMM	muscle
16	chr7:97736000-97737400	Active TSS	NHEK	skin
17	chr7:97736000-97737600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:97736000-97737600	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr7:97736000-97737600	Active TSS	Brain Cingulate Gyrus	brain
20	chr7:97736000-97737600	Active TSS	Pancreas	Pancrea
21	chr7:97736000-97737600	Active TSS	HSMMtube	muscle
22	chr7:97736000-97737600	Active TSS	NHLF	lung
23	chr7:97736000-97737800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:97736000-97737800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:97736000-97737800	Active TSS	Brain Anterior Caudate	brain
26	chr7:97736000-97737800	Active TSS	Colonic Mucosa	Colon
27	chr7:97736000-97737800	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr7:97736000-97737800	Active TSS	Right Ventricle	heart
29	chr7:97736000-97738000	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr7:97736000-97738000	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr7:97736000-97738200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:97736200-97737400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr7:97736200-97737400	Active TSS	Ovary	ovary
34	chr7:97736200-97737400	Active TSS	Small Intestine	intestine
35	chr7:97736200-97737400	Active TSS	Stomach Mucosa	stomach
36	chr7:97736200-97737400	Active TSS	NHDF-Ad	bronchial
37	chr7:97736200-97737600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:97736200-97737600	Active TSS	Left Ventricle	heart
39	chr7:97736200-97737800	Active TSS	Psoas Muscle	Psoas
40	chr7:97736200-97738000	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr7:97736200-97738000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:97736200-97738200	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr7:97736600-97737400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:97736600-97737600	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr7:97736800-97737400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
46	chr7:97736800-97737400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr7:97736800-97737400	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr7:97736800-97737400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr7:97736800-97737400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr7:97736800-97737400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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