Variant report

Variant	rs1424362
Chromosome Location	chr2:96198358-96198359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:96197171..96199687-chr2:96228199..96230029,2	MCF-7	breast:
2	chr2:96193783..96195942-chr2:96197752..96200330,2	MCF-7	breast:
3	chr2:96197687..96200374-chr2:96200707..96202651,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229689	Chromatin interaction
ENSG00000236431	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1862896	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6707154	1.00[ASN][1000 genomes]
rs6745441	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv998014	chr2:95913278-96296630	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3416818	chr2:96072529-96680708	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv834300	chr2:96087967-96337557	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv874660	chr2:96091132-96669134	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv516044	chr2:96150959-96683378	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv1006283	chr2:96159804-96206863	Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh 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	7 gene(s)	inside rSNPs	diseases
8	nsv1001305	chr2:96161688-96259200	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1008062	chr2:96166970-96259200	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv998984	chr2:96166970-96290275	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv998587	chr2:96170558-96378228	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv961452	chr2:96195565-96199535	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96193200-96199000	Weak transcription	HSMMtube	muscle
2	chr2:96193400-96199000	Weak transcription	Fetal Brain Male	brain
3	chr2:96193600-96198800	Weak transcription	Fetal Thymus	thymus
4	chr2:96193800-96199000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr2:96193800-96200400	Weak transcription	Stomach Mucosa	stomach
6	chr2:96194000-96198400	Weak transcription	HMEC	breast
7	chr2:96194400-96207200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:96195200-96199000	Weak transcription	Fetal Kidney	kidney
9	chr2:96195800-96201600	Weak transcription	Fetal Lung	lung
10	chr2:96196200-96198600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:96196200-96198600	Strong transcription	Fetal Intestine Small	intestine
12	chr2:96196800-96198400	Weak transcription	Brain Angular Gyrus	brain
13	chr2:96196800-96199600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:96197000-96199000	Weak transcription	HUVEC	blood vessel
15	chr2:96197200-96198400	Weak transcription	Lung	lung
16	chr2:96197200-96198600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:96197200-96198800	Weak transcription	Right Ventricle	heart
18	chr2:96197200-96200600	Weak transcription	Brain Substantia Nigra	brain
19	chr2:96197400-96199000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:96197400-96199200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:96197400-96199200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:96197600-96198600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:96197600-96198800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:96197600-96199200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:96197600-96199200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:96197600-96199200	Weak transcription	Fetal Intestine Large	intestine
27	chr2:96197600-96199200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:96197600-96199200	Weak transcription	NHEK	skin
29	chr2:96197600-96199400	Weak transcription	Thymus	Thymus
30	chr2:96197600-96200800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:96197600-96203800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:96197600-96203800	Weak transcription	HSMM	muscle
33	chr2:96197800-96198400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:96197800-96198800	Weak transcription	Gastric	stomach
35	chr2:96197800-96199400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:96197800-96199400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:96197800-96199400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:96197800-96199400	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:96197800-96199400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:96197800-96199400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr2:96197800-96199400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr2:96197800-96199400	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:96197800-96199600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:96197800-96200200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:96197800-96200200	Weak transcription	Fetal Brain Female	brain
46	chr2:96197800-96203600	Weak transcription	Left Ventricle	heart
47	chr2:96197800-96203800	Weak transcription	GM12878-XiMat	blood
48	chr2:96197800-96203800	Weak transcription	NHLF	lung
49	chr2:96197800-96205800	Weak transcription	NHDF-Ad	bronchial
50	chr2:96198000-96198400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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