Variant report

Variant	rs171035
Chromosome Location	chr5:77936295-77936296
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:77935628..77937313-chr5:77945519..77948138,2	MCF-7	breast:
2	chr5:77932938..77939935-chr5:77942023..77946135,10	MCF-7	breast:
3	chr5:77935729..77937549-chr5:77939132..77942017,2	K562	blood:

Variant related genes	Relation type
ENSG00000248909	Chromatin interaction
ENSG00000145685	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10060702	0.92[ASN][1000 genomes]
rs163633	0.98[ASN][1000 genomes]
rs168190	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs189322	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs341917	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs341918	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs341919	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs341920	0.89[ASN][1000 genomes]
rs341924	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs341925	0.98[ASN][1000 genomes]
rs341926	0.95[ASN][1000 genomes]
rs341927	0.98[ASN][1000 genomes]
rs341928	0.96[ASN][1000 genomes]
rs341930	0.98[ASN][1000 genomes]
rs344639	0.91[ASN][1000 genomes]
rs461989	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522738	chr5:77434730-78063683	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3522739	chr5:77434730-78063683	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers 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 target site	34 gene(s)	inside rSNPs	diseases
3	nsv949530	chr5:77830403-78477017	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv830356	chr5:77847022-78011999	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1021768	chr5:77881915-78465489	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv2762527	chr5:77921199-78548196	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv1792242	chr5:77927033-77966625	Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:77926600-77937000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:77927400-77936600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:77928200-77942400	Weak transcription	Primary B cells from cord blood	blood
4	chr5:77929200-77937200	Enhancers	Colon Smooth Muscle	Colon
5	chr5:77930400-77936800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:77930600-77936600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:77930600-77938000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:77930800-77936600	Weak transcription	Thymus	Thymus
9	chr5:77931000-77942800	Weak transcription	K562	blood
10	chr5:77932200-77936600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr5:77932200-77937400	Enhancers	Rectal Smooth Muscle	rectum
12	chr5:77932200-77937800	Enhancers	Fetal Intestine Small	intestine
13	chr5:77932400-77938600	Enhancers	Fetal Intestine Large	intestine
14	chr5:77932800-77937000	Enhancers	Hela-S3	cervix
15	chr5:77932800-77938200	Enhancers	HMEC	breast
16	chr5:77933000-77937200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr5:77933200-77937200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:77933200-77937200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr5:77933200-77937200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:77933200-77937200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:77933200-77937200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:77933200-77937200	Enhancers	NH-A	brain
23	chr5:77933400-77937200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr5:77933400-77937200	Enhancers	Adipose Nuclei	Adipose
25	chr5:77933400-77937200	Enhancers	Stomach Mucosa	stomach
26	chr5:77933400-77937200	Enhancers	NHDF-Ad	bronchial
27	chr5:77933600-77936600	Enhancers	Fetal Kidney	kidney
28	chr5:77933600-77936600	Enhancers	Fetal Lung	lung
29	chr5:77933600-77936600	Enhancers	HepG2	liver
30	chr5:77933600-77936800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:77933600-77936800	Weak transcription	Fetal Thymus	thymus
32	chr5:77933600-77937200	Enhancers	Osteobl	bone
33	chr5:77933600-77937400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr5:77933800-77936600	Weak transcription	Gastric	stomach
35	chr5:77933800-77938000	Enhancers	Fetal Muscle Leg	muscle
36	chr5:77933800-77940600	Weak transcription	Placenta	Placenta
37	chr5:77933800-77941400	Weak transcription	Right Atrium	heart
38	chr5:77933800-77943200	Weak transcription	Esophagus	oesophagus
39	chr5:77934200-77937200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:77934200-77937200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:77934200-77937200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr5:77934400-77937200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr5:77934400-77937200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr5:77934400-77937200	Enhancers	Fetal Stomach	stomach
45	chr5:77934400-77937200	Enhancers	NHLF	lung
46	chr5:77934600-77936400	Enhancers	Brain Germinal Matrix	brain
47	chr5:77934600-77936600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr5:77934600-77936600	Enhancers	HSMM	muscle
49	chr5:77934600-77936800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:77934600-77936800	Enhancers	Brain Anterior Caudate	brain

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