Variant report

Variant	rs7585764
Chromosome Location	chr2:97260071-97260072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97257494..97261086-chr2:97426493..97430081,3	MCF-7	breast:
2	chr2:97258239..97260866-chr2:97265002..97267473,2	K562	blood:
3	chr2:97257801..97260638-chr2:97301331..97305337,3	K562	blood:

Variant related genes	Relation type
ENSG00000114982	Chromatin interaction
ENSG00000158158	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10167376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10194350	1.00[AMR][1000 genomes]
rs10205661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13405293	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28438599	1.00[AMR][1000 genomes]
rs6705228	0.85[AFR][1000 genomes]
rs72941221	1.00[AMR][1000 genomes]
rs72941290	1.00[AMR][1000 genomes]
rs72942905	1.00[AMR][1000 genomes]
rs7599851	1.00[AMR][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97248400-97283600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:97248800-97266200	Weak transcription	Small Intestine	intestine
3	chr2:97253200-97266200	Weak transcription	Right Atrium	heart
4	chr2:97254800-97271000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:97255000-97267800	Strong transcription	A549	lung
6	chr2:97255200-97263800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:97256000-97262200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:97256000-97264600	Strong transcription	Fetal Intestine Small	intestine
9	chr2:97256200-97282400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:97256600-97274200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:97256600-97283800	Strong transcription	Placenta	Placenta
12	chr2:97256600-97287000	Strong transcription	Dnd41	blood
13	chr2:97256800-97262800	Strong transcription	Fetal Brain Female	brain
14	chr2:97256800-97263800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:97256800-97267000	Strong transcription	Liver	Liver
16	chr2:97256800-97274200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:97257000-97262600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:97257000-97264200	Strong transcription	Primary B cells from cord blood	blood
19	chr2:97257000-97264200	Strong transcription	Fetal Muscle Trunk	muscle
20	chr2:97257000-97267200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:97257000-97279600	Strong transcription	Fetal Lung	lung
22	chr2:97257200-97264600	Strong transcription	Fetal Stomach	stomach
23	chr2:97257400-97260200	Strong transcription	Fetal Thymus	thymus
24	chr2:97257400-97262400	Strong transcription	Brain Anterior Caudate	brain
25	chr2:97257400-97262800	Strong transcription	NHEK	skin
26	chr2:97257400-97263400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:97257400-97264400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:97257400-97264600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:97257400-97264800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:97257400-97267400	Strong transcription	Fetal Intestine Large	intestine
31	chr2:97257400-97272200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:97257400-97272400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:97257400-97273600	Strong transcription	Left Ventricle	heart
34	chr2:97257400-97274000	Strong transcription	Osteobl	bone
35	chr2:97257400-97274200	Strong transcription	HSMMtube	muscle
36	chr2:97257400-97279600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:97257400-97279600	Strong transcription	Primary hematopoietic stem cells	blood
38	chr2:97257400-97279600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:97257400-97279800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:97257400-97279800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr2:97257400-97280000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:97257400-97280800	Strong transcription	Fetal Muscle Leg	muscle
43	chr2:97257400-97282400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr2:97257600-97262200	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr2:97257600-97264200	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:97257600-97267600	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr2:97257600-97280800	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:97257600-97286400	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:97257800-97260400	Strong transcription	Thymus	Thymus
50	chr2:97257800-97261400	Strong transcription	Brain Substantia Nigra	brain

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