Variant report

Variant	rs11689419
Chromosome Location	chr2:153467816-153467817
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	chr2:153364136..153366729-chr2:153467251..153469526,2	MCF-7	breast:
2	chr2:153463501..153465128-chr2:153466581..153468882,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11694512	0.88[EUR][1000 genomes]
rs12478681	0.87[EUR][1000 genomes]
rs12990935	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023975	1.00[ASN][1000 genomes]
rs16831440	1.00[ASN][1000 genomes]
rs34469468	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66839581	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575441	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591868	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153400000-153468200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:153423800-153471200	Weak transcription	Fetal Kidney	kidney
3	chr2:153428000-153468200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:153434200-153473600	Weak transcription	Brain Germinal Matrix	brain
5	chr2:153435400-153473200	Weak transcription	Right Ventricle	heart
6	chr2:153438400-153475400	Weak transcription	Pancreas	Pancrea
7	chr2:153441000-153468000	Weak transcription	Fetal Intestine Large	intestine
8	chr2:153442800-153468000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:153442800-153471600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:153443000-153476400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:153444600-153468200	Weak transcription	HUVEC	blood vessel
12	chr2:153444600-153468200	Weak transcription	NH-A	brain
13	chr2:153448600-153468200	Weak transcription	Lung	lung
14	chr2:153451200-153476200	Weak transcription	Gastric	stomach
15	chr2:153451400-153468000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:153451400-153473600	Weak transcription	Aorta	Aorta
17	chr2:153452200-153468200	Weak transcription	Small Intestine	intestine
18	chr2:153454800-153468200	Weak transcription	Right Atrium	heart
19	chr2:153454800-153471800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:153454800-153473600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:153454800-153473600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:153454800-153496600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:153456200-153469600	Weak transcription	A549	lung
24	chr2:153456400-153469800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:153457200-153468000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:153457200-153473200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:153457200-153505000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:153457400-153468400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:153457800-153468000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:153457800-153468000	Weak transcription	Adipose Nuclei	Adipose
31	chr2:153457800-153468200	Weak transcription	Hela-S3	cervix
32	chr2:153459600-153468200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:153459800-153468200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:153459800-153468200	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:153459800-153468800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:153459800-153468800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:153460000-153471400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:153461000-153468200	Weak transcription	HSMMtube	muscle
39	chr2:153461000-153468600	Weak transcription	HSMM	muscle
40	chr2:153462200-153474800	Weak transcription	Fetal Intestine Small	intestine
41	chr2:153462400-153468200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:153462800-153468000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:153463000-153468000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:153463000-153468000	Weak transcription	NHLF	lung
45	chr2:153463000-153468000	Weak transcription	Osteobl	bone
46	chr2:153463600-153468200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:153463600-153479600	Strong transcription	Placenta	Placenta
48	chr2:153463800-153502800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:153464000-153468000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:153464000-153468000	Weak transcription	Colon Smooth Muscle	Colon

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