Variant report

Variant	rs7634880
Chromosome Location	chr3:194942872-194942873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194929483..194931560-chr3:194941813..194943643,2	K562	blood:
2	chr3:194942662..194945263-chr3:194948423..194950004,2	K562	blood:
3	chr3:194941162..194944048-chr3:194944539..194948128,3	K562	blood:
4	chr3:194941540..194944139-chr3:194945711..194947318,2	K562	blood:
5	chr3:194942154..194945109-chr3:194956482..194959428,3	K562	blood:

Variant related genes	Relation type
ENSG00000173950	Chromatin interaction

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

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

rs_ID	r²[population]
rs11918729	0.90[LWK][hapmap]
rs6779124	0.92[AFR][1000 genomes]
rs6779129	0.92[AFR][1000 genomes]
rs6779217	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
7	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
8	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
9	nsv1009120	chr3:194874494-194974672	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1010168	chr3:194874494-195135790	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv536877	chr3:194874494-195135790	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv997956	chr3:194879534-195087539	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
13	nsv536878	chr3:194879534-195087539	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	esv1832781	chr3:194902818-195528226	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
15	nsv432508	chr3:194916131-195478861	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
16	nsv432510	chr3:194935314-195478861	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194918800-194945000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:194919400-194945200	Weak transcription	Thymus	Thymus
3	chr3:194926400-194947600	Weak transcription	Gastric	stomach
4	chr3:194929800-194947400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr3:194931200-194948800	Weak transcription	Fetal Intestine Large	intestine
6	chr3:194931400-194945400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:194931600-194946600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr3:194931600-194958800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:194931800-194944200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr3:194931800-194945200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr3:194931800-194956600	Weak transcription	K562	blood
12	chr3:194932400-194944000	Weak transcription	HSMM	muscle
13	chr3:194932600-194944000	Weak transcription	NHLF	lung
14	chr3:194935000-194943800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:194935000-194944000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:194935600-194945200	Weak transcription	Fetal Brain Female	brain
17	chr3:194939200-194947600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr3:194939600-194948200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr3:194940000-194943000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:194940200-194943000	Enhancers	Fetal Lung	lung
21	chr3:194940200-194943000	Enhancers	Fetal Muscle Trunk	muscle
22	chr3:194940200-194943200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr3:194940200-194943400	Enhancers	Ovary	ovary
24	chr3:194940200-194943400	Enhancers	Spleen	Spleen
25	chr3:194940200-194944000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:194940200-194946000	Enhancers	Placenta	Placenta
27	chr3:194940400-194943400	Strong transcription	Fetal Intestine Small	intestine
28	chr3:194940400-194945600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:194940400-194948200	Weak transcription	Fetal Kidney	kidney
30	chr3:194940400-194949600	Weak transcription	Colonic Mucosa	Colon
31	chr3:194940600-194943000	Enhancers	Right Atrium	heart
32	chr3:194940600-194944000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr3:194940600-194944400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:194940600-194944800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr3:194940600-194945200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:194940600-194959000	Weak transcription	Right Ventricle	heart
37	chr3:194940800-194944000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr3:194940800-194944000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:194940800-194944000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:194940800-194945200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr3:194940800-194945600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr3:194940800-194946800	Weak transcription	Brain Germinal Matrix	brain
43	chr3:194941200-194943000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:194941400-194943000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr3:194941400-194943000	Enhancers	Rectal Smooth Muscle	rectum
46	chr3:194941400-194943400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr3:194941400-194944000	Enhancers	Adipose Nuclei	Adipose
48	chr3:194941400-194945800	Weak transcription	Dnd41	blood
49	chr3:194941600-194943200	Enhancers	Fetal Thymus	thymus
50	chr3:194941600-194945800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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