Variant report

Variant	rs72846244
Chromosome Location	chr2:128470778-128470779
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128468155..128475493-chr2:128475660..128479860,9	MCF-7	breast:
2	chr2:128464774..128467466-chr2:128468774..128473318,5	MCF-7	breast:
3	chr2:128464420..128466251-chr2:128470291..128472281,2	K562	blood:
4	chr2:128456734..128463842-chr2:128470594..128476625,14	K562	blood:
5	chr2:128470706..128473379-chr2:128476446..128477957,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173349	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11693223	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61730415	0.85[AFR][1000 genomes]
rs7585200	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003004	chr2:128295320-128474326	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1006421	chr2:128299079-128473079	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1004877	chr2:128299079-128479640	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv875015	chr2:128305196-128495645	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv3368061	chr2:128375044-128672849	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv428726	chr2:128387756-128539894	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv459252	chr2:128398840-128476484	Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases
8	nsv583038	chr2:128398840-128476484	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases
9	nsv875030	chr2:128399414-128495645	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128460400-128483000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:128460400-128520000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:128461200-128473400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:128461200-128474800	Strong transcription	Fetal Intestine Small	intestine
5	chr2:128461200-128476400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:128461200-128476800	Weak transcription	Small Intestine	intestine
7	chr2:128461200-128482800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:128461200-128485600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:128461800-128472000	Strong transcription	Fetal Thymus	thymus
10	chr2:128461800-128473200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:128461800-128475000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:128462600-128477400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:128463000-128479400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:128463000-128480200	Strong transcription	Primary T cells from cord blood	blood
15	chr2:128463200-128479400	Weak transcription	Stomach Mucosa	stomach
16	chr2:128463400-128484800	Strong transcription	Thymus	Thymus
17	chr2:128463600-128476200	Weak transcription	NHDF-Ad	bronchial
18	chr2:128464000-128471800	Weak transcription	Hela-S3	cervix
19	chr2:128464000-128476800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:128465400-128473000	Weak transcription	HSMM	muscle
21	chr2:128466200-128475800	Weak transcription	K562	blood
22	chr2:128466400-128471200	Weak transcription	Esophagus	oesophagus
23	chr2:128466400-128475800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:128466400-128481800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr2:128466400-128490200	Weak transcription	Right Atrium	heart
26	chr2:128466600-128473600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:128466600-128475800	Weak transcription	Brain Angular Gyrus	brain
28	chr2:128466800-128473000	Weak transcription	NHLF	lung
29	chr2:128466800-128477200	Weak transcription	Fetal Kidney	kidney
30	chr2:128466800-128479000	Weak transcription	Fetal Brain Male	brain
31	chr2:128467200-128472800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:128467200-128473200	Weak transcription	Psoas Muscle	Psoas
33	chr2:128467200-128476200	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:128467200-128476400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr2:128467400-128471000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:128467400-128473000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:128467400-128473400	Weak transcription	HMEC	breast
38	chr2:128467400-128476000	Weak transcription	HSMMtube	muscle
39	chr2:128467400-128476000	Weak transcription	HUVEC	blood vessel
40	chr2:128467400-128476200	Weak transcription	Brain Substantia Nigra	brain
41	chr2:128467400-128476400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr2:128467600-128471000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:128467600-128473400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr2:128467600-128474200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:128467600-128475800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:128468000-128471200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:128468000-128471800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:128468000-128475800	Weak transcription	NH-A	brain
49	chr2:128468200-128471200	Weak transcription	Adipose Nuclei	Adipose
50	chr2:128468200-128474000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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