Variant report

Variant	rs829700
Chromosome Location	chr2:30643863-30643864
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30643798..30646343-chr2:30647095..30650083,5	K562	blood:
2	chr2:30560615..30562781-chr2:30642971..30644684,2	K562	blood:
3	chr2:30643130..30645110-chr2:30649070..30651101,2	MCF-7	breast:
4	chr2:30643531..30645684-chr2:30646943..30651051,5	K562	blood:
5	chr2:30368074..30370588-chr2:30643535..30646269,2	K562	blood:

Variant related genes	Relation type
ENSG00000119801	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1252651	0.97[ASN][1000 genomes]
rs1252654	0.98[EUR][1000 genomes]
rs1662946	0.82[ASN][1000 genomes]
rs829563	0.90[ASN][1000 genomes]
rs829564	0.90[ASN][1000 genomes]
rs829565	0.90[ASN][1000 genomes]
rs829581	0.90[ASN][1000 genomes]
rs829639	0.90[ASN][1000 genomes]
rs829653	0.93[ASN][1000 genomes]
rs829681	0.97[ASN][1000 genomes]
rs829684	0.97[ASN][1000 genomes]
rs829694	0.97[ASN][1000 genomes]
rs829695	0.97[ASN][1000 genomes]
rs829696	0.97[ASN][1000 genomes]
rs829699	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829701	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs860487	0.97[ASN][1000 genomes]
rs866680	0.97[ASN][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	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv1799950	chr2:30632520-30654319	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30627600-30647200	Weak transcription	Brain Angular Gyrus	brain
2	chr2:30628000-30644400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:30632200-30644600	Weak transcription	Esophagus	oesophagus
4	chr2:30633800-30644000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:30633800-30644000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:30634000-30644400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:30634800-30644000	Weak transcription	Thymus	Thymus
8	chr2:30636400-30644000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:30636400-30644400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:30636400-30644400	Weak transcription	Gastric	stomach
11	chr2:30636800-30644400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:30637200-30644000	Weak transcription	Right Ventricle	heart
13	chr2:30637400-30644200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:30637400-30644600	Weak transcription	Fetal Brain Male	brain
15	chr2:30640000-30644200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:30640000-30644400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:30640200-30644000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:30640200-30644400	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:30640200-30644400	Weak transcription	Right Atrium	heart
20	chr2:30640200-30644400	Weak transcription	Small Intestine	intestine
21	chr2:30640200-30644600	Weak transcription	Adipose Nuclei	Adipose
22	chr2:30640400-30644000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:30640400-30644000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:30640400-30644000	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:30640400-30644000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:30640400-30644000	Weak transcription	Fetal Stomach	stomach
27	chr2:30640400-30644000	Weak transcription	Left Ventricle	heart
28	chr2:30640400-30644000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:30640400-30644000	Weak transcription	A549	lung
30	chr2:30640400-30644000	Weak transcription	NH-A	brain
31	chr2:30640400-30644200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:30640400-30644200	Weak transcription	Fetal Kidney	kidney
33	chr2:30640400-30644400	Weak transcription	Placenta	Placenta
34	chr2:30640400-30644600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:30640600-30644000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:30640600-30644000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:30640600-30644000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:30640600-30644000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:30640600-30644000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:30640600-30644000	Weak transcription	Brain Anterior Caudate	brain
41	chr2:30640600-30644000	Weak transcription	Fetal Intestine Large	intestine
42	chr2:30640600-30644000	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:30640600-30644000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:30640600-30644000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:30640600-30644000	Weak transcription	HSMMtube	muscle
46	chr2:30640600-30644200	Weak transcription	Fetal Intestine Small	intestine
47	chr2:30640800-30644000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:30643200-30644600	Enhancers	Primary B cells from cord blood	blood
49	chr2:30643400-30644000	Enhancers	Primary T cells from cord blood	blood
50	chr2:30643400-30644400	Enhancers	Primary T helper cells PMA-I stimulated	--

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