Variant report

Variant	rs72819442
Chromosome Location	chr2:95723165-95723166
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr2:95722350-95724206	HepG2	liver:	n/a	chr2:95723515-95723530
2	MAX	chr2:95722380-95724021	HepG2	liver:	n/a	chr2:95723515-95723530
3	CTCF	chr2:95723120-95723350	HRE	kidney:	n/a	n/a
4	CTCF	chr2:95723040-95723190	NHEK	skin:	n/a	chr2:95723094-95723103
5	CTCF	chr2:95723020-95723170	HBMEC	blood vessel:	n/a	chr2:95723094-95723103

No.	Distal block	Cell Line	Cell type
1	chr2:95717464..95720060-chr2:95721874..95723809,2	MCF-7	breast:
2	chr2:95717110..95719318-chr2:95721681..95723671,2	K562	blood:
3	chr2:95718104..95721350-chr2:95721478..95724713,4	K562	blood:
4	chr2:95721270..95722875-chr2:95722918..95725899,2	MCF-7	breast:
5	chr2:95722359..95726880-chr2:95740082..95744931,5	MCF-7	breast:
6	chr2:95720619..95723205-chr2:95727451..95729974,2	MCF-7	breast:
7	chr2:95688820..95689576-chr2:95722947..95723938,2	MCF-7	breast:
8	chr2:95722035..95723837-chr2:95724936..95726737,2	K562	blood:

Variant related genes	Relation type
ENSG00000231062	TF binding region
ENSG00000231062	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72819427	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000661	chr2:95327875-95739468	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1003666	chr2:95618109-95772924	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv482276	chr2:95711972-95888406	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95706200-95723800	Weak transcription	Fetal Kidney	kidney
2	chr2:95709600-95724000	Weak transcription	Pancreas	Pancrea
3	chr2:95714400-95724400	Weak transcription	Gastric	stomach
4	chr2:95719400-95724000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr2:95719600-95723200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:95719800-95723200	Enhancers	Primary T cells from cord blood	blood
7	chr2:95719800-95723600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:95719800-95723600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:95720800-95723600	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:95721200-95723600	Enhancers	Brain Hippocampus Middle	brain
11	chr2:95721400-95723600	Enhancers	Brain Anterior Caudate	brain
12	chr2:95721400-95723600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr2:95721400-95723600	Enhancers	Brain Substantia Nigra	brain
14	chr2:95721600-95724000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr2:95721600-95729800	Enhancers	Fetal Thymus	thymus
16	chr2:95721800-95723800	Enhancers	Brain Angular Gyrus	brain
17	chr2:95721800-95725400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:95722000-95723200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:95722000-95723200	Enhancers	HSMM	muscle
20	chr2:95722000-95724000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:95722000-95726400	Weak transcription	Dnd41	blood
22	chr2:95722000-95726400	Weak transcription	GM12878-XiMat	blood
23	chr2:95722000-95726600	Flanking Bivalent TSS/Enh	HepG2	liver
24	chr2:95722200-95723200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:95722200-95723200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:95722200-95723200	Enhancers	NH-A	brain
27	chr2:95722200-95723400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:95722200-95723400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:95722200-95723600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr2:95722200-95723600	Enhancers	HMEC	breast
31	chr2:95722200-95725000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:95722200-95725400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr2:95722400-95723800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:95722400-95723800	Enhancers	Brain Germinal Matrix	brain
35	chr2:95722400-95726800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:95722400-95726800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:95722400-95727200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:95722600-95723800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:95722600-95723800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:95722600-95723800	Enhancers	Fetal Muscle Leg	muscle
41	chr2:95722600-95724000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr2:95722600-95726400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:95722600-95726600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr2:95722800-95723200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr2:95722800-95724400	Weak transcription	Esophagus	oesophagus
46	chr2:95722800-95726800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:95723000-95723200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:95723000-95723400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:95723000-95725600	Enhancers	Thymus	Thymus
50	chr2:95723000-95726600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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