Variant report

Variant	rs6708171
Chromosome Location	chr2:97552734-97552735
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97547842..97556078-chr2:97610100..97619985,30	MCF-7	breast:
2	chr2:97481115..97483071-chr2:97550688..97553621,3	MCF-7	breast:
3	chr2:97551955..97554482-chr8:128958951..128961206,2	MCF-7	breast:
4	chr2:74209535..74211828-chr2:97552282..97555129,2	MCF-7	breast:
5	chr2:97484849..97487237-chr2:97551281..97553107,2	MCF-7	breast:
6	chr2:97548965..97553137-chr2:97593651..97595519,4	MCF-7	breast:
7	chr2:97548465..97553435-chr2:97558286..97563042,6	K562	blood:
8	chr2:97552573..97554389-chr6:26271788..26274276,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256655	Chromatin interaction
ENSG00000168763	Chromatin interaction
ENSG00000168754	Chromatin interaction
ENSG00000168242	Chromatin interaction
ENSG00000218690	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10179546	0.83[EUR][1000 genomes]
rs11889101	0.89[ASN][1000 genomes]
rs11900466	0.89[ASN][1000 genomes]
rs17119655	0.92[ASN][1000 genomes]
rs3903548	0.89[ASN][1000 genomes]
rs57397886	0.89[ASN][1000 genomes]
rs57675226	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58232717	0.89[ASN][1000 genomes]
rs59660613	0.92[ASN][1000 genomes]
rs60063645	0.87[ASN][1000 genomes]
rs62152871	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62152900	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152902	0.88[EUR][1000 genomes]
rs62152908	0.92[ASN][1000 genomes]
rs62152910	0.92[ASN][1000 genomes]
rs6717064	0.92[ASN][1000 genomes]
rs6734326	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6734673	0.92[ASN][1000 genomes]
rs6735969	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6746020	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72811653	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72811663	0.89[ASN][1000 genomes]
rs72811667	0.89[ASN][1000 genomes]
rs7591775	0.89[ASN][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	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	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6708171	FAM178B	cis	Artery Tibial	GTEx

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97536800-97555200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:97542200-97553000	Weak transcription	Fetal Intestine Small	intestine
3	chr2:97542800-97557400	Enhancers	Placenta	Placenta
4	chr2:97545800-97554200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:97546000-97555000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr2:97547400-97553200	Weak transcription	Fetal Brain Female	brain
7	chr2:97547400-97553400	Weak transcription	GM12878-XiMat	blood
8	chr2:97547600-97553200	Weak transcription	Brain Germinal Matrix	brain
9	chr2:97547800-97555000	Enhancers	Esophagus	oesophagus
10	chr2:97548200-97553200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:97548200-97553200	Weak transcription	Pancreas	Pancrea
12	chr2:97548200-97555400	Enhancers	Fetal Muscle Leg	muscle
13	chr2:97548400-97553000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:97548400-97553200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:97548400-97553200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:97548600-97556000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:97548800-97553400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:97549000-97553000	Weak transcription	HSMM	muscle
19	chr2:97549000-97553200	Enhancers	Spleen	Spleen
20	chr2:97549000-97553600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:97549200-97554000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:97549400-97554400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:97549600-97554000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:97549800-97554400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:97549800-97554600	Genic enhancers	K562	blood
26	chr2:97550200-97553000	Weak transcription	Stomach Mucosa	stomach
27	chr2:97550200-97553600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
28	chr2:97550400-97555000	Enhancers	Fetal Stomach	stomach
29	chr2:97550600-97552800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:97550600-97553000	Enhancers	Brain Hippocampus Middle	brain
31	chr2:97550600-97554800	Enhancers	Fetal Lung	lung
32	chr2:97550800-97553000	Enhancers	Brain Cingulate Gyrus	brain
33	chr2:97550800-97553400	Enhancers	Brain Angular Gyrus	brain
34	chr2:97550800-97554200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr2:97550800-97555000	Enhancers	Brain Anterior Caudate	brain
36	chr2:97551000-97553000	Weak transcription	Adipose Nuclei	Adipose
37	chr2:97551000-97553000	Weak transcription	Fetal Intestine Large	intestine
38	chr2:97551000-97553000	Weak transcription	Left Ventricle	heart
39	chr2:97551000-97553000	Enhancers	Stomach Smooth Muscle	stomach
40	chr2:97551000-97553200	Weak transcription	Gastric	stomach
41	chr2:97551000-97555000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:97551200-97555000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:97551400-97554000	Enhancers	Fetal Brain Male	brain
44	chr2:97551600-97553000	Weak transcription	Right Ventricle	heart
45	chr2:97551600-97553200	Enhancers	Brain Substantia Nigra	brain
46	chr2:97551600-97555000	Enhancers	Colonic Mucosa	Colon
47	chr2:97551800-97552800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:97551800-97553000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:97551800-97553000	Enhancers	Rectal Smooth Muscle	rectum
50	chr2:97551800-97554000	Enhancers	Skeletal Muscle Female	skeletal muscle

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