Variant report

Variant	rs599941
Chromosome Location	chr1:84720870-84720871
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84719167..84721681-chr1:84724768..84726729,2	MCF-7	breast:
2	chr1:84718460..84721280-chr1:84722520..84725212,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10430066	1.00[EUR][1000 genomes]
rs12030564	1.00[EUR][1000 genomes]
rs12039442	1.00[EUR][1000 genomes]
rs12047035	1.00[EUR][1000 genomes]
rs12567002	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2812448	0.86[CHB][hapmap];1.00[EUR][1000 genomes]
rs582201	1.00[EUR][1000 genomes]
rs583720	0.83[AFR][1000 genomes]
rs600674	0.92[YRI][hapmap]
rs655849	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs657603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs685104	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830414	chr1:84636738-84824651	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84705800-84723000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:84714000-84726000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:84718200-84721400	Enhancers	A549	lung
4	chr1:84718200-84723400	Enhancers	Brain Substantia Nigra	brain
5	chr1:84718400-84721400	Enhancers	Brain Anterior Caudate	brain
6	chr1:84718400-84721600	Enhancers	Brain Cingulate Gyrus	brain
7	chr1:84718400-84721600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr1:84718800-84721400	Enhancers	Stomach Smooth Muscle	stomach
9	chr1:84718800-84721600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr1:84719000-84721400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:84719000-84722000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:84719400-84721200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:84719600-84721000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:84719600-84721200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:84719600-84721800	Enhancers	Stomach Mucosa	stomach
16	chr1:84719800-84721000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:84719800-84721000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr1:84719800-84721000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:84719800-84721200	Weak transcription	Colonic Mucosa	Colon
20	chr1:84719800-84721600	Enhancers	Brain Angular Gyrus	brain
21	chr1:84720000-84721600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr1:84720000-84722000	Enhancers	Brain Hippocampus Middle	brain
23	chr1:84720000-84722200	Weak transcription	Gastric	stomach
24	chr1:84720000-84725600	Weak transcription	Pancreas	Pancrea
25	chr1:84720200-84721000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:84720200-84721200	Weak transcription	HepG2	liver
27	chr1:84720200-84723400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:84720400-84721000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:84720400-84721000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr1:84720600-84727400	Weak transcription	Aorta	Aorta
31	chr1:84720800-84721000	Enhancers	HSMMtube	muscle

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