Variant report

Variant	rs7534198
Chromosome Location	chr1:171469702-171469703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:171452664..171455516-chr1:171467805..171470037,2	K562	blood:
2	chr1:171465256..171467403-chr1:171468400..171471374,3	MCF-7	breast:
3	chr1:171454829..171458429-chr1:171468344..171472224,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117523	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs35041900	0.93[AFR][1000 genomes]
rs56737295	1.00[EUR][1000 genomes]
rs57057228	1.00[EUR][1000 genomes]
rs57152399	1.00[EUR][1000 genomes]
rs57268639	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57295197	1.00[EUR][1000 genomes]
rs57732262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58804054	1.00[EUR][1000 genomes]
rs58832725	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59025168	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59135694	1.00[EUR][1000 genomes]
rs59660141	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59876822	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59907184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60166114	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61149631	1.00[EUR][1000 genomes]
rs61416201	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038352	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038391	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040395	1.00[EUR][1000 genomes]
rs7540339	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv465639	chr1:171459507-171545051	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv548190	chr1:171459507-171545051	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171456000-171481800	Weak transcription	Placenta	Placenta
2	chr1:171456200-171475000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:171456400-171470200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:171456400-171471200	Weak transcription	Thymus	Thymus
5	chr1:171456400-171473000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:171456400-171481800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:171456400-171483600	Weak transcription	Fetal Intestine Large	intestine
8	chr1:171456800-171474800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:171457600-171471000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:171457800-171482000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:171457800-171482200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:171458200-171471000	Weak transcription	Fetal Brain Female	brain
13	chr1:171459000-171482000	Weak transcription	HMEC	breast
14	chr1:171460400-171471800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:171460800-171470200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:171460800-171470600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:171460800-171481400	Weak transcription	HSMM	muscle
18	chr1:171461800-171469800	Weak transcription	Primary B cells from cord blood	blood
19	chr1:171461800-171470400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:171462600-171471200	Weak transcription	Right Atrium	heart
21	chr1:171462600-171478000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:171462600-171482400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:171463000-171483200	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:171464000-171475200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:171464000-171483200	Weak transcription	Esophagus	oesophagus
26	chr1:171464200-171471000	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:171464200-171474600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:171464200-171476000	Weak transcription	NHDF-Ad	bronchial
29	chr1:171464200-171476800	Weak transcription	Brain Angular Gyrus	brain
30	chr1:171464200-171481600	Weak transcription	NHEK	skin
31	chr1:171464400-171470000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:171464400-171470600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr1:171464400-171470600	Weak transcription	Fetal Brain Male	brain
34	chr1:171464400-171475400	Weak transcription	NH-A	brain
35	chr1:171464600-171470400	Weak transcription	Brain Germinal Matrix	brain
36	chr1:171464600-171471200	Weak transcription	Brain Anterior Caudate	brain
37	chr1:171465000-171473400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:171465000-171475000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:171465000-171476200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:171465200-171470600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:171465200-171470600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:171465200-171472400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:171465200-171475200	Weak transcription	Osteobl	bone
44	chr1:171465200-171475400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:171465200-171481800	Weak transcription	HUVEC	blood vessel
46	chr1:171465200-171482200	Weak transcription	Fetal Lung	lung
47	chr1:171465200-171483200	Weak transcription	NHLF	lung
48	chr1:171465200-171483600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:171466200-171470600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:171466200-171475000	Weak transcription	Brain Inferior Temporal Lobe	brain

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