Variant report

Variant	rs6731336
Chromosome Location	chr2:47554053-47554054
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47551819..47555543-chr2:47557649..47559561,3	K562	blood:
2	chr2:47154064..47155957-chr2:47551668..47554389,2	K562	blood:
3	chr2:47314295..47316142-chr2:47551772..47554703,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALM2-2	chr2:47549983-47560165	NONHSAT070563

Variant related genes	Relation type
ENSG00000236824	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17224731	1.00[AMR][1000 genomes]
rs17224927	1.00[AMR][1000 genomes]
rs17224934	1.00[AMR][1000 genomes]
rs72808414	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882715	1.00[ASN][1000 genomes]
rs73926889	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer 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	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv524003	chr2:47543245-47590034	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv581756	chr2:47552706-47590930	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1009586	chr2:47552706-47621487	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47543200-47563400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:47549000-47563400	Weak transcription	Spleen	Spleen
3	chr2:47549200-47558000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:47549200-47559200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:47549200-47561200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:47549200-47563600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:47550400-47555000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:47550400-47555000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:47550400-47563200	Weak transcription	Fetal Kidney	kidney
10	chr2:47550400-47563800	Weak transcription	Gastric	stomach
11	chr2:47550400-47565200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:47550600-47554600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:47550600-47558800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:47550600-47563400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:47550800-47555000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:47550800-47555000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:47550800-47558600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:47550800-47558800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr2:47550800-47559400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:47550800-47559400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:47550800-47559400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:47550800-47559600	Weak transcription	Pancreas	Pancrea
23	chr2:47550800-47561400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:47550800-47561400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:47550800-47563400	Weak transcription	Brain Angular Gyrus	brain
26	chr2:47550800-47563400	Weak transcription	Right Atrium	heart
27	chr2:47551000-47554800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:47551000-47557800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr2:47551000-47559200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:47551000-47560600	Strong transcription	Fetal Intestine Small	intestine
31	chr2:47551000-47561400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:47551000-47561400	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:47551000-47561400	Weak transcription	Brain Substantia Nigra	brain
34	chr2:47551000-47563400	Weak transcription	Colonic Mucosa	Colon
35	chr2:47551000-47563400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:47551000-47563400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr2:47551000-47564000	Weak transcription	Stomach Mucosa	stomach
38	chr2:47551000-47565600	Weak transcription	Ovary	ovary
39	chr2:47551200-47555000	Weak transcription	Brain Germinal Matrix	brain
40	chr2:47551200-47558200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr2:47551200-47561400	Weak transcription	A549	lung
42	chr2:47551200-47572400	Weak transcription	Lung	lung
43	chr2:47552000-47555000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr2:47552600-47554800	Strong transcription	Fetal Stomach	stomach
45	chr2:47552600-47555600	Strong transcription	Fetal Intestine Large	intestine
46	chr2:47552600-47570000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:47552800-47555000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:47552800-47560600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:47553200-47557800	Weak transcription	Fetal Lung	lung
50	chr2:47554000-47554200	Enhancers	Placenta Amnion	Placenta Amnion

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