Variant report

Variant	rs7597736
Chromosome Location	chr2:97643680-97643681
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:97632347..97633971-chr2:97643638..97646130,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10172803	1.00[AMR][1000 genomes]
rs12612694	1.00[EUR][1000 genomes]
rs12615663	1.00[EUR][1000 genomes]
rs12616466	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12620989	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402074	1.00[AMR][1000 genomes]
rs13408711	1.00[AMR][1000 genomes]
rs13419720	1.00[EUR][1000 genomes]
rs13421281	1.00[EUR][1000 genomes]
rs13422315	1.00[EUR][1000 genomes]
rs34228766	1.00[AMR][1000 genomes]
rs4069515	1.00[EUR][1000 genomes]
rs4481029	1.00[EUR][1000 genomes]
rs6727416	1.00[EUR][1000 genomes]
rs72947062	1.00[EUR][1000 genomes]
rs73959418	1.00[EUR][1000 genomes]
rs7582819	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription 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 miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv582497	chr2:97569305-97715154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
12	nsv1001432	chr2:97591069-97671395	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	esv32727	chr2:97616488-97643975	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	nsv582498	chr2:97639135-97715154	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97638400-97647600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:97642200-97644200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:97643000-97644000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:97643000-97644000	Enhancers	HMEC	breast
5	chr2:97643200-97643800	Active TSS	Brain Cingulate Gyrus	brain
6	chr2:97643200-97643800	Active TSS	Brain Hippocampus Middle	brain
7	chr2:97643200-97644000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:97643200-97644000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:97643200-97644000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:97643200-97644000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:97643200-97644000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr2:97643200-97644000	Enhancers	NH-A	brain
13	chr2:97643200-97644200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:97643200-97644200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:97643200-97644200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr2:97643200-97644400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:97643400-97643800	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr2:97643400-97643800	Enhancers	Primary T cells from cord blood	blood
19	chr2:97643400-97643800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:97643400-97643800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:97643400-97643800	Active TSS	Brain Angular Gyrus	brain
22	chr2:97643400-97643800	Active TSS	Brain Anterior Caudate	brain
23	chr2:97643400-97643800	Active TSS	Ovary	ovary
24	chr2:97643400-97643800	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr2:97643400-97644000	Enhancers	Primary T cells fromperipheralblood	blood
26	chr2:97643400-97644000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr2:97643400-97644000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr2:97643400-97644000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:97643400-97644000	Active TSS	Fetal Brain Male	brain
30	chr2:97643400-97644000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr2:97643400-97644000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:97643400-97644200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:97643600-97643800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:97643600-97643800	Enhancers	Brain Substantia Nigra	brain
35	chr2:97643600-97643800	Active TSS	Fetal Kidney	kidney
36	chr2:97643600-97643800	Active TSS	HSMMtube	muscle
37	chr2:97643600-97644000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:97643600-97644000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:97643600-97644000	Enhancers	Adipose Nuclei	Adipose
40	chr2:97643600-97644000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr2:97643600-97644000	Active TSS	Fetal Lung	lung
42	chr2:97643600-97644000	Enhancers	Right Atrium	heart
43	chr2:97643600-97644000	Bivalent Enhancer	K562	blood
44	chr2:97643600-97644200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr2:97643600-97644200	Enhancers	A549	lung

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