Variant report

Variant	rs561801461
Chromosome Location	chr6:2265503-2265504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:2263398..2266340-chr6:2266756..2269445,2	K562	blood:
2	chr6:2243938..2247142-chr6:2264459..2268782,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250903	Chromatin interaction
ENSG00000112699	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv1025814	chr6:2064629-2308518	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
4	nsv538098	chr6:2064629-2308518	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	nsv1030181	chr6:2071210-2308657	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
6	nsv538099	chr6:2071210-2308657	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
7	nsv883388	chr6:2093432-2514911	Strong transcription Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	nsv883389	chr6:2093432-2776303	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
9	nsv1022623	chr6:2199666-2267750	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
10	nsv538100	chr6:2199666-2267750	ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
11	nsv1022166	chr6:2199666-2320800	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv1017174	chr6:2213893-2340529	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
13	nsv1033201	chr6:2218647-2308518	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
14	nsv538101	chr6:2218647-2308518	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
15	esv2763526	chr6:2230064-2311916	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
16	nsv1021573	chr6:2246721-2832408	Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
17	nsv538102	chr6:2246721-2832408	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
18	nsv883390	chr6:2265344-2584919	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2247000-2269400	Weak transcription	Right Ventricle	heart
2	chr6:2247000-2273800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:2247000-2275000	Weak transcription	Fetal Kidney	kidney
4	chr6:2247000-2275400	Weak transcription	NHLF	lung
5	chr6:2247000-2275600	Weak transcription	Fetal Heart	heart
6	chr6:2247200-2272600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:2247600-2274400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:2247800-2284200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:2248200-2275000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr6:2248400-2274400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr6:2250400-2267600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr6:2250400-2274800	Weak transcription	Brain Angular Gyrus	brain
13	chr6:2251000-2273600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:2252400-2265800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:2255200-2272400	Weak transcription	Brain Hippocampus Middle	brain
16	chr6:2255400-2272800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:2255600-2269600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr6:2255800-2288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr6:2256000-2269400	Weak transcription	Fetal Lung	lung
20	chr6:2256000-2272400	Weak transcription	Placenta	Placenta
21	chr6:2256200-2272400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:2256200-2272600	Weak transcription	Brain Substantia Nigra	brain
23	chr6:2256200-2272800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:2258800-2265800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr6:2258800-2271000	Weak transcription	Colonic Mucosa	Colon
26	chr6:2259800-2276400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr6:2261600-2272000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:2261800-2272800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:2262200-2267000	Weak transcription	Stomach Mucosa	stomach
30	chr6:2262200-2282600	Weak transcription	Small Intestine	intestine
31	chr6:2263800-2265600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr6:2264000-2279000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:2264200-2265600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr6:2264200-2265600	Strong transcription	Esophagus	oesophagus
35	chr6:2264200-2265600	Strong transcription	Ovary	ovary
36	chr6:2264200-2265600	Strong transcription	Rectal Smooth Muscle	rectum
37	chr6:2264200-2265800	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr6:2264200-2265800	Strong transcription	Fetal Intestine Large	intestine
39	chr6:2264200-2265800	Strong transcription	Spleen	Spleen
40	chr6:2264200-2266000	Strong transcription	Primary T cells from cord blood	blood
41	chr6:2264200-2266000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr6:2264200-2266000	Strong transcription	Liver	Liver
43	chr6:2264200-2266200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:2264200-2266200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr6:2264200-2266200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:2264200-2266200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:2264200-2266200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr6:2264200-2266200	Strong transcription	Fetal Muscle Leg	muscle
49	chr6:2264200-2266200	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr6:2264200-2266200	Strong transcription	GM12878-XiMat	blood

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