Variant report

Variant	rs13401784
Chromosome Location	chr2:96830167-96830168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:96828939..96831395-chr2:96833381..96835868,2	K562	blood:
2	chr2:96785911..96788186-chr2:96829635..96832570,2	K562	blood:
3	chr2:96824942..96826995-chr2:96828111..96830787,2	MCF-7	breast:
4	chr2:96827796..96830832-chr2:96836279..96838571,3	K562	blood:
5	chr2:96820286..96828646-chr2:96829192..96834775,11	K562	blood:
6	chr2:96829019..96830904-chr2:96871682..96874974,3	K562	blood:

Variant related genes	Relation type
ENSG00000204685	Chromatin interaction
ENSG00000084090	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10179191	1.00[AMR][1000 genomes]
rs10192619	1.00[AMR][1000 genomes]
rs10209653	1.00[AMR][1000 genomes]
rs12328961	1.00[YRI][hapmap]
rs13401470	1.00[AMR][1000 genomes]
rs13404738	1.00[YRI][hapmap]
rs13413120	1.00[AMR][1000 genomes]
rs13415055	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs13422469	1.00[AMR][1000 genomes]
rs13426632	1.00[AMR][1000 genomes]
rs28409425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6705228	1.00[AMR][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	esv1840487	chr2:96582807-96836512	Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv1825266	chr2:96704118-96830753	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	esv1819594	chr2:96755038-96833480	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
8	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
9	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS 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 miRNA target site	162 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96814400-96840000	Weak transcription	Right Atrium	heart
2	chr2:96821000-96831800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:96824600-96830400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:96825000-96830200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:96827600-96830800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:96827600-96831200	Enhancers	Primary hematopoietic stem cells	blood
7	chr2:96827600-96831400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:96827600-96831600	Enhancers	Primary B cells from peripheral blood	blood
9	chr2:96827600-96831600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:96827800-96830200	Enhancers	Colonic Mucosa	Colon
11	chr2:96828000-96831000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:96828200-96830200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:96828200-96830200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:96828200-96832800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:96828200-96833400	Weak transcription	Stomach Mucosa	stomach
16	chr2:96828200-96850000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:96828600-96830800	Enhancers	Primary B cells from cord blood	blood
18	chr2:96828800-96830200	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr2:96828800-96831000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:96828800-96831000	Enhancers	Fetal Muscle Trunk	muscle
21	chr2:96828800-96831000	Enhancers	Spleen	Spleen
22	chr2:96829000-96830600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:96829000-96831000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr2:96829000-96831000	Enhancers	Fetal Muscle Leg	muscle
25	chr2:96829000-96831000	Flanking Active TSS	GM12878-XiMat	blood
26	chr2:96829200-96830200	Enhancers	HSMMtube	muscle
27	chr2:96829200-96830600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:96829200-96830600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr2:96829200-96830600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:96829200-96830600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:96829200-96830600	Enhancers	Fetal Stomach	stomach
32	chr2:96829200-96830600	Flanking Active TSS	Fetal Thymus	thymus
33	chr2:96829200-96830600	Enhancers	Right Ventricle	heart
34	chr2:96829200-96830600	Flanking Active TSS	Thymus	Thymus
35	chr2:96829200-96831000	Enhancers	Placenta	Placenta
36	chr2:96829200-96831000	Flanking Active TSS	Dnd41	blood
37	chr2:96829400-96830200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:96829400-96830400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr2:96829400-96830600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr2:96829400-96831000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:96829400-96831000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr2:96829600-96830200	Bivalent Enhancer	HepG2	liver
43	chr2:96829600-96830200	Enhancers	HSMM	muscle
44	chr2:96829600-96830400	Enhancers	Brain Angular Gyrus	brain
45	chr2:96829600-96830400	Enhancers	Brain Hippocampus Middle	brain
46	chr2:96829800-96830200	Enhancers	Brain Cingulate Gyrus	brain
47	chr2:96829800-96830400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr2:96829800-96830400	Enhancers	Brain Anterior Caudate	brain
49	chr2:96829800-96830400	Enhancers	Brain Substantia Nigra	brain
50	chr2:96829800-96830600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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