Variant report

Variant	rs73922855
Chromosome Location	chr2:39455906-39455907
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39348043..39352382-chr2:39450241..39456710,6	K562	blood:
2	chr2:39287527..39289050-chr2:39453888..39455986,2	K562	blood:
3	chr2:39346582..39349686-chr2:39454756..39458494,4	MCF-7	breast:
4	chr2:39346528..39348124-chr2:39454906..39456114,13	MCF-7	breast:
5	chr2:39286188..39287216-chr2:39454531..39455924,7	MCF-7	breast:
6	chr2:39346611..39348848-chr2:39454530..39456606,2	K562	blood:
7	chr2:38976938..38979508-chr2:39454441..39457000,2	K562	blood:

Variant related genes	Relation type
ENSG00000115904	Chromatin interaction
ENSG00000115875	Chromatin interaction
ENSG00000152147	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11885294	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11891744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11895080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11897365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11898705	1.00[AMR][1000 genomes]
rs11900883	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11902441	1.00[AMR][1000 genomes]
rs11903528	1.00[AMR][1000 genomes]
rs11904764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34819676	1.00[AMR][1000 genomes]
rs55649294	1.00[AMR][1000 genomes]
rs55967570	1.00[AMR][1000 genomes]
rs56256711	1.00[AMR][1000 genomes]
rs73922850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922858	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924808	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930515	1.00[AMR][1000 genomes]
rs73930516	1.00[AMR][1000 genomes]
rs73930517	1.00[AMR][1000 genomes]
rs73930520	1.00[AMR][1000 genomes]
rs73930523	1.00[AMR][1000 genomes]
rs73930525	1.00[AMR][1000 genomes]
rs73930527	1.00[AMR][1000 genomes]
rs73930530	1.00[AMR][1000 genomes]
rs73930537	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930547	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1010874	chr2:39255376-39604535	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv535649	chr2:39255376-39604535	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv531346	chr2:39263225-39606367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers 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	36 gene(s)	inside rSNPs	diseases
5	nsv533348	chr2:39264345-39596169	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1014520	chr2:39270598-39596299	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv535650	chr2:39270598-39596299	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv1009379	chr2:39271472-39604535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv581493	chr2:39277851-39547575	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
11	nsv533456	chr2:39281834-39596298	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv581495	chr2:39282079-39475205	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
13	nsv1000658	chr2:39374206-39466374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	esv1832414	chr2:39385155-39588797	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv833847	chr2:39410762-39604640	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv533445	chr2:39412970-39605266	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	esv1830024	chr2:39440552-39588797	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39423400-39470800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:39429800-39459600	Weak transcription	HSMM	muscle
3	chr2:39447600-39456400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:39449200-39477600	Weak transcription	HSMMtube	muscle
5	chr2:39454600-39456000	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr2:39454600-39456200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr2:39454800-39456000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:39455000-39456000	Active TSS	Stomach Smooth Muscle	stomach
9	chr2:39455000-39456200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr2:39455000-39456200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr2:39455000-39456200	Enhancers	NHLF	lung
12	chr2:39455000-39456400	Enhancers	Primary B cells from peripheral blood	blood
13	chr2:39455000-39456400	Enhancers	Fetal Brain Male	brain
14	chr2:39455000-39457000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr2:39455200-39456000	Enhancers	Liver	Liver
16	chr2:39455200-39456000	Enhancers	Stomach Mucosa	stomach
17	chr2:39455200-39456000	Active TSS	Osteobl	bone
18	chr2:39455200-39456200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:39455200-39456200	Enhancers	GM12878-XiMat	blood
20	chr2:39455200-39456400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr2:39455200-39456400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:39455400-39456000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:39455400-39456000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr2:39455400-39456000	Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr2:39455400-39456000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:39455400-39456000	Active TSS	Right Atrium	heart
27	chr2:39455400-39456000	Bivalent/Poised TSS	HepG2	liver
28	chr2:39455400-39456000	Flanking Active TSS	HUVEC	blood vessel
29	chr2:39455400-39456000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr2:39455400-39456200	Active TSS	H1 Cell Line	embryonic stem cell
31	chr2:39455400-39456200	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr2:39455400-39456200	Active TSS	Brain Cingulate Gyrus	brain
33	chr2:39455400-39456200	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr2:39455400-39456200	Active TSS	Fetal Brain Female	brain
35	chr2:39455400-39456200	Flanking Active TSS	Fetal Intestine Large	intestine
36	chr2:39455400-39456400	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr2:39455400-39456400	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr2:39455400-39456400	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr2:39455400-39456400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:39455400-39456600	Weak transcription	A549	lung
41	chr2:39455400-39470600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:39455600-39456000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:39455600-39456000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:39455600-39456000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:39455600-39456000	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr2:39455600-39456000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:39455600-39456000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr2:39455600-39456000	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr2:39455600-39456000	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr2:39455600-39456000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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