Variant report

Variant	rs6744923
Chromosome Location	chr2:153545639-153545640
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	chr2:153543054..153544558-chr2:153544937..153547868,2	K562	blood:
2	chr2:153543869..153546870-chr2:153573319..153576625,4	K562	blood:

Variant related genes	Relation type
ENSG00000177917	Chromatin interaction
ENSG00000196504	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11899051	0.89[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs12621561	0.88[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs13419068	0.90[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs16831556	0.91[CHB][hapmap]
rs17400645	0.92[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1962313	0.86[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1986743	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs2346537	0.91[CHB][hapmap]
rs2346539	0.91[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs2346540	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2346543	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2346549	0.81[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs3175	0.85[JPT][hapmap]
rs3748937	0.81[ASN][1000 genomes]
rs3748938	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs3762503	0.92[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3811567	0.86[CHB][hapmap]
rs4233660	0.86[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs4267470	0.86[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs4580346	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4664121	0.91[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs4664601	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4664605	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs4664606	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs4664609	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4664610	0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4664611	0.81[CHB][hapmap]
rs6434128	0.80[CEU][hapmap];0.82[CHB][hapmap];0.90[GIH][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap]
rs6727279	0.81[ASN][1000 genomes]
rs6746079	0.83[ASN][1000 genomes]
rs6748160	0.85[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs72871191	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72872607	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7556673	0.91[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs7576847	0.95[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7582253	0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs7589899	0.80[CHB][hapmap]
rs7599946	0.86[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs7608603	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs9789505	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9789521	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[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	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
2	esv3693438	chr2:153505376-153718246	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153506200-153546800	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:153508000-153550800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr2:153509200-153551200	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:153518400-153551000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:153518800-153558000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:153523000-153557800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:153523400-153571800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:153525000-153557800	Weak transcription	Lung	lung
9	chr2:153525000-153571800	Weak transcription	Small Intestine	intestine
10	chr2:153532400-153550800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:153533200-153549000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:153533200-153551000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:153533200-153551600	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:153533200-153558000	Weak transcription	Colonic Mucosa	Colon
15	chr2:153533400-153546800	Weak transcription	Fetal Intestine Small	intestine
16	chr2:153533400-153549600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:153533400-153557800	Weak transcription	Fetal Stomach	stomach
18	chr2:153533400-153558600	Weak transcription	Aorta	Aorta
19	chr2:153533400-153571600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:153533800-153550200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:153533800-153558000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:153533800-153572600	Weak transcription	Fetal Brain Male	brain
23	chr2:153534000-153546800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:153536000-153546000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:153536000-153546000	Weak transcription	Fetal Intestine Large	intestine
26	chr2:153536000-153572600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr2:153536200-153550200	Weak transcription	NHLF	lung
28	chr2:153537200-153549000	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:153537200-153557200	Weak transcription	Thymus	Thymus
30	chr2:153537400-153550600	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:153537400-153565400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:153537600-153548600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:153537600-153550600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr2:153537600-153557400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:153537600-153558400	Weak transcription	Fetal Brain Female	brain
36	chr2:153537600-153571800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:153537800-153548400	Weak transcription	Adipose Nuclei	Adipose
38	chr2:153537800-153548800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:153537800-153548800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:153537800-153548800	Weak transcription	Fetal Lung	lung
41	chr2:153537800-153549000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:153537800-153549600	Weak transcription	Hela-S3	cervix
43	chr2:153537800-153550600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:153537800-153550800	Weak transcription	Brain Substantia Nigra	brain
45	chr2:153537800-153557800	Weak transcription	Brain Germinal Matrix	brain
46	chr2:153538000-153548400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:153538000-153548600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:153538000-153550600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:153538000-153550600	Weak transcription	HSMMtube	muscle
50	chr2:153538200-153547000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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