Variant report

Variant	rs7584621
Chromosome Location	chr2:30470986-30470987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30470010..30473545-chr2:30474573..30477601,4	K562	blood:
2	chr2:30470929..30473564-chr2:30474573..30477601,4	K562	blood:
3	chr2:30457464..30459532-chr2:30469414..30471477,2	MCF-7	breast:
4	chr2:30465310..30467321-chr2:30469848..30471396,2	MCF-7	breast:
5	chr2:30470318..30472928-chr2:30883308..30885388,2	K562	blood:
6	chr2:30469843..30471764-chr2:30477374..30479207,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13405267	1.00[EUR][1000 genomes]
rs4539836	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7587458	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7592149	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv2662	chr2:30462905-30495134	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30457000-30476600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:30457200-30473000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:30457600-30471800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:30457800-30481000	Weak transcription	Gastric	stomach
5	chr2:30458400-30475800	Weak transcription	Fetal Kidney	kidney
6	chr2:30460800-30471800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:30461000-30479800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:30461800-30472200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:30462200-30473200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:30462800-30471200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:30462800-30474800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:30462800-30475400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr2:30463000-30471000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:30463000-30473000	Weak transcription	Fetal Intestine Small	intestine
15	chr2:30463000-30474200	Weak transcription	Fetal Intestine Large	intestine
16	chr2:30463000-30474800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:30463000-30475400	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr2:30463200-30471200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:30463400-30472400	Strong transcription	HSMM	muscle
20	chr2:30463400-30473400	Weak transcription	Ovary	ovary
21	chr2:30463400-30474800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:30463400-30474800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:30463400-30475000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:30463400-30475400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:30463400-30475600	Weak transcription	Brain Germinal Matrix	brain
26	chr2:30463400-30475600	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:30463400-30475600	Weak transcription	Esophagus	oesophagus
28	chr2:30463600-30472200	Weak transcription	Lung	lung
29	chr2:30463600-30472200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:30463600-30472400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:30463600-30473200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:30463600-30475600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:30463600-30475600	Weak transcription	Osteobl	bone
34	chr2:30463800-30472200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:30463800-30474800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:30464200-30472400	Weak transcription	Right Atrium	heart
37	chr2:30464200-30474600	Weak transcription	Small Intestine	intestine
38	chr2:30464800-30472200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:30464800-30472200	Genic enhancers	Primary T cells from cord blood	blood
40	chr2:30465400-30474000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:30465400-30480000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:30466000-30477000	Genic enhancers	Primary B cells from peripheral blood	blood
43	chr2:30466200-30474000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:30466200-30476400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
45	chr2:30466200-30480400	Weak transcription	Fetal Brain Male	brain
46	chr2:30466600-30474600	Weak transcription	NH-A	brain
47	chr2:30467000-30471000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr2:30467200-30471600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr2:30467200-30475600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:30467400-30475600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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