Variant report

Variant	rs34469468
Chromosome Location	chr2:153472177-153472178
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	chr2:153471594..153474219-chr2:153474436..153476371,2	K562	blood:
2	chr2:153471185..153473579-chr2:153475752..153479734,3	K562	blood:

Variant related genes	Relation type
ENSG00000157827	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10497113	0.84[EUR][1000 genomes]
rs10931263	0.82[EUR][1000 genomes]
rs10931271	0.82[EUR][1000 genomes]
rs1135617	0.84[EUR][1000 genomes]
rs11674911	0.82[EUR][1000 genomes]
rs11676069	0.82[EUR][1000 genomes]
rs11689419	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11901227	0.83[EUR][1000 genomes]
rs12475871	0.84[EUR][1000 genomes]
rs12989903	0.84[EUR][1000 genomes]
rs12990935	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12995388	0.84[EUR][1000 genomes]
rs12999331	0.84[EUR][1000 genomes]
rs13003670	0.84[EUR][1000 genomes]
rs13006652	0.84[EUR][1000 genomes]
rs13014141	0.84[EUR][1000 genomes]
rs13017131	0.84[EUR][1000 genomes]
rs13022436	0.84[EUR][1000 genomes]
rs13023779	0.88[EUR][1000 genomes]
rs13023975	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1370499	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16831440	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831456	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17328776	0.84[EUR][1000 genomes]
rs17400456	0.84[EUR][1000 genomes]
rs17400938	0.82[EUR][1000 genomes]
rs2083097	0.84[EUR][1000 genomes]
rs2346551	0.82[EUR][1000 genomes]
rs34199006	0.83[EUR][1000 genomes]
rs34454505	0.82[EUR][1000 genomes]
rs34619076	0.84[EUR][1000 genomes]
rs34775858	0.84[EUR][1000 genomes]
rs35002744	0.82[EUR][1000 genomes]
rs35421285	0.82[EUR][1000 genomes]
rs35754252	0.83[EUR][1000 genomes]
rs35894330	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35937874	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36107565	0.82[EUR][1000 genomes]
rs36122595	0.84[EUR][1000 genomes]
rs3811568	0.90[EUR][1000 genomes]
rs3811569	0.87[EUR][1000 genomes]
rs4575677	0.84[EUR][1000 genomes]
rs6434172	0.84[EUR][1000 genomes]
rs66492085	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66839581	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66849546	0.84[EUR][1000 genomes]
rs6728189	0.84[EUR][1000 genomes]
rs6736003	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71417232	0.89[EUR][1000 genomes]
rs71417235	0.84[EUR][1000 genomes]
rs72871148	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7575441	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7591590	0.82[EUR][1000 genomes]
rs7591868	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7598878	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153434200-153473600	Weak transcription	Brain Germinal Matrix	brain
2	chr2:153435400-153473200	Weak transcription	Right Ventricle	heart
3	chr2:153438400-153475400	Weak transcription	Pancreas	Pancrea
4	chr2:153443000-153476400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:153451200-153476200	Weak transcription	Gastric	stomach
6	chr2:153451400-153473600	Weak transcription	Aorta	Aorta
7	chr2:153454800-153473600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:153454800-153473600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:153454800-153496600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:153457200-153473200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:153457200-153505000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:153462200-153474800	Weak transcription	Fetal Intestine Small	intestine
13	chr2:153463600-153479600	Strong transcription	Placenta	Placenta
14	chr2:153463800-153502800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:153464000-153479200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:153464000-153502800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:153464600-153480000	Strong transcription	NHEK	skin
18	chr2:153465600-153474000	Weak transcription	Fetal Brain Male	brain
19	chr2:153467200-153504000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:153468000-153472200	Strong transcription	Fetal Brain Female	brain
21	chr2:153468000-153474200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:153468000-153480000	Strong transcription	HepG2	liver
23	chr2:153468000-153483200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:153468200-153477800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:153468200-153479400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:153468400-153473200	Weak transcription	Fetal Intestine Large	intestine
27	chr2:153468400-153479200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:153468600-153479200	Strong transcription	HMEC	breast
29	chr2:153468600-153480400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:153468600-153495800	Weak transcription	Esophagus	oesophagus
31	chr2:153468800-153475000	Weak transcription	Hela-S3	cervix
32	chr2:153468800-153479000	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:153468800-153492000	Weak transcription	Liver	Liver
34	chr2:153469000-153472400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:153469000-153473000	Weak transcription	Ovary	ovary
36	chr2:153469000-153473200	Weak transcription	HSMMtube	muscle
37	chr2:153469000-153473400	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:153469000-153473600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:153469000-153473800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:153469000-153474200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:153469000-153475600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:153469000-153493800	Weak transcription	Spleen	Spleen
43	chr2:153469000-153496400	Weak transcription	Colonic Mucosa	Colon
44	chr2:153469000-153509800	Weak transcription	Small Intestine	intestine
45	chr2:153469200-153473800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:153469200-153475400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:153469200-153481200	Weak transcription	Right Atrium	heart
48	chr2:153469200-153484400	Weak transcription	Psoas Muscle	Psoas
49	chr2:153469200-153495200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:153469600-153472200	Strong transcription	Fetal Muscle Leg	muscle

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