Variant report

Variant	rs2031132
Chromosome Location	chr1:227931560-227931561
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227918805..227924684-chr1:227929963..227939883,12	K562	blood:
2	chr1:227930380..227932578-chr1:227934222..227938567,7	K562	blood:
3	chr1:227916292..227919497-chr1:227931130..227934123,3	K562	blood:
4	chr1:227929538..227931796-chr1:227944402..227947337,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-JMJD4-1	chr1:227931532-227931822	ENSG00000251190
2	lnc-PRSS38-1	chr1:227931532-227931822	ENSG00000230005.1
3	lnc-JMJD4-1	chr1:227931532-227931822	ENSG00000230005.2

No data

Variant related genes	Relation type
ENSG00000143740	Chromatin interaction
ENSG00000081692	Chromatin interaction
ENSG00000230005	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10916205	0.82[MKK][hapmap]
rs1570429	0.81[CEU][hapmap]
rs16848110	0.81[CEU][hapmap]
rs2029836	0.81[CEU][hapmap]
rs2273936	0.81[CEU][hapmap]
rs35582095	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3806264	0.81[CEU][hapmap]
rs6683869	0.87[LWK][hapmap];0.88[MKK][hapmap];0.83[AFR][1000 genomes]
rs6688900	0.86[ASN][1000 genomes]
rs6695545	0.85[ASN][1000 genomes]
rs748405	0.81[CEU][hapmap]
rs7555241	0.83[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers 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	33 gene(s)	inside rSNPs	diseases
3	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
5	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
7	nsv515496	chr1:227912474-227967938	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv873249	chr1:227920061-228121548	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227923800-227935600	Weak transcription	Aorta	Aorta
2	chr1:227924000-227932000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:227924000-227935400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:227924000-227935600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr1:227924000-227936400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:227924200-227931600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:227924200-227931600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:227924200-227931800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:227924200-227932000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:227924200-227932400	Weak transcription	Fetal Thymus	thymus
11	chr1:227924200-227933800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:227924200-227933800	Weak transcription	HMEC	breast
13	chr1:227924200-227934600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:227924200-227934800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:227924200-227935000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:227924200-227935000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:227924200-227935000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:227924200-227935400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:227924200-227935400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:227924200-227935400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:227924200-227935400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:227924200-227935400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:227924200-227935400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:227924200-227935400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr1:227924200-227935400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:227924200-227935600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:227924200-227935600	Weak transcription	Primary B cells from cord blood	blood
28	chr1:227924200-227935800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:227924200-227935800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:227924200-227935800	Weak transcription	A549	lung
31	chr1:227924200-227936000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:227924200-227936000	Weak transcription	Fetal Kidney	kidney
33	chr1:227924200-227940800	Weak transcription	HSMMtube	muscle
34	chr1:227924200-227941200	Weak transcription	HSMM	muscle
35	chr1:227924200-227941200	Weak transcription	NHDF-Ad	bronchial
36	chr1:227924200-227941600	Weak transcription	Osteobl	bone
37	chr1:227924200-227942000	Weak transcription	Hela-S3	cervix
38	chr1:227924200-227946800	Weak transcription	HUVEC	blood vessel
39	chr1:227924200-227955000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr1:227924400-227932000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:227924400-227935400	Weak transcription	Fetal Lung	lung
42	chr1:227924400-227935800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:227924400-227936200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:227924600-227931800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:227924600-227935400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr1:227924800-227931600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:227924800-227932400	Weak transcription	Esophagus	oesophagus
48	chr1:227924800-227932600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:227924800-227935000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:227924800-227935400	Weak transcription	Brain Substantia Nigra	brain

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