Variant report

Variant	rs35472114
Chromosome Location	chr2:153341606-153341607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153338899..153342224-chr2:153344838..153347667,4	K562	blood:
2	chr2:153326388..153330903-chr2:153339849..153343861,4	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12104452	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12987348	1.00[EUR][1000 genomes]
rs12989840	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12991474	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12993239	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12999189	1.00[EUR][1000 genomes]
rs13011850	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13018434	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13021931	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13023943	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs13027160	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13027356	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13029667	1.00[EUR][1000 genomes]
rs13034458	1.00[EUR][1000 genomes]
rs34300140	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34332337	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34416306	1.00[EUR][1000 genomes]
rs34457645	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34504342	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34722196	1.00[EUR][1000 genomes]
rs35199259	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35804350	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36108117	1.00[EUR][1000 genomes]
rs6434046	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6731516	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6745613	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71417227	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71417229	1.00[EUR][1000 genomes]
rs73016010	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv875292	chr2:153308471-153357383	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv2830258	chr2:153318339-153349165	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153326200-153345800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:153330800-153342400	Weak transcription	Stomach Mucosa	stomach
3	chr2:153330800-153347400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:153333000-153342200	Weak transcription	Adipose Nuclei	Adipose
5	chr2:153334400-153342400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:153334400-153353800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:153336000-153347600	Weak transcription	Aorta	Aorta
8	chr2:153337200-153342400	Enhancers	Fetal Kidney	kidney
9	chr2:153338400-153342400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:153338400-153342400	Enhancers	Fetal Intestine Small	intestine
11	chr2:153338400-153345600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:153338400-153345800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:153338600-153342200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:153338600-153342200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:153338600-153342200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:153338600-153342400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:153338600-153342400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:153338600-153346600	Weak transcription	Colonic Mucosa	Colon
19	chr2:153338600-153353400	Weak transcription	NHEK	skin
20	chr2:153338800-153342000	Enhancers	HepG2	liver
21	chr2:153339000-153342400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:153339200-153342600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:153339400-153342200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:153339400-153345600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:153339800-153341800	Weak transcription	Fetal Intestine Large	intestine
26	chr2:153340400-153342200	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:153340400-153342200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:153340400-153342200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:153340400-153346800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:153340600-153342000	Weak transcription	Brain Anterior Caudate	brain
31	chr2:153340600-153342000	Weak transcription	Brain Substantia Nigra	brain
32	chr2:153340600-153342200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:153340600-153342200	Weak transcription	Brain Angular Gyrus	brain
34	chr2:153340600-153342200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:153340600-153342200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:153340600-153342400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:153340600-153342400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr2:153340600-153342800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:153340600-153345400	Weak transcription	Ovary	ovary
40	chr2:153340600-153347400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:153340600-153354200	Weak transcription	Small Intestine	intestine
42	chr2:153340800-153342000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:153340800-153342000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:153340800-153342000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:153340800-153342000	Weak transcription	A549	lung
46	chr2:153340800-153342200	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:153340800-153342200	Weak transcription	Psoas Muscle	Psoas
48	chr2:153340800-153342800	Weak transcription	Fetal Lung	lung
49	chr2:153341000-153342000	Weak transcription	Brain Hippocampus Middle	brain
50	chr2:153341000-153342200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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