Variant report

Variant	rs12334349
Chromosome Location	chr8:103118841-103118842
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103117364..103120108-chr8:103121907..103124531,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs57718182	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60659426	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6994672	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7826367	0.89[AFR][1000 genomes]
rs7826675	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv891235	chr8:103032394-103162638	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv891239	chr8:103056517-103162638	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv891240	chr8:103070301-103162638	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	esv2754264	chr8:103070824-103170824	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv891241	chr8:103079505-103162638	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103108400-103120000	Weak transcription	Gastric	stomach
2	chr8:103109800-103120000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:103113000-103119600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:103114600-103121400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr8:103114800-103119800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:103114800-103120000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:103115000-103119800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:103115000-103120000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:103115000-103120000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:103115000-103120000	Weak transcription	Fetal Brain Female	brain
11	chr8:103115000-103120000	Weak transcription	Right Atrium	heart
12	chr8:103115200-103119000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:103115200-103120000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:103115200-103120000	Weak transcription	Adipose Nuclei	Adipose
15	chr8:103115200-103120000	Weak transcription	Lung	lung
16	chr8:103115200-103120000	Weak transcription	Psoas Muscle	Psoas
17	chr8:103115400-103119600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr8:103115400-103119800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:103115400-103120000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:103115600-103119800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:103115800-103121400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:103116000-103120000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:103116200-103119800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:103116200-103120000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:103116200-103121400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr8:103116400-103119800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr8:103116400-103119800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:103116400-103121000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr8:103116400-103122800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:103116400-103123600	Weak transcription	Fetal Brain Male	brain
31	chr8:103116600-103119000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:103116800-103119800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr8:103116800-103121400	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr8:103117000-103119800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr8:103117000-103120000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr8:103117200-103119600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:103117600-103119400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr8:103117600-103121600	Enhancers	Fetal Heart	heart
39	chr8:103117800-103119000	Weak transcription	Stomach Mucosa	stomach
40	chr8:103117800-103120000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:103117800-103120000	Weak transcription	Left Ventricle	heart
42	chr8:103118000-103120000	Weak transcription	Ovary	ovary
43	chr8:103118000-103120000	Weak transcription	Small Intestine	intestine
44	chr8:103118400-103119400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr8:103118400-103120400	Enhancers	Fetal Muscle Leg	muscle
46	chr8:103118600-103120800	Enhancers	Fetal Thymus	thymus
47	chr8:103118800-103119000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr8:103118800-103119000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:103118800-103119000	Enhancers	Aorta	Aorta
50	chr8:103118800-103119000	Enhancers	Fetal Intestine Small	intestine

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