Variant report

Variant	rs554814834
Chromosome Location	chr6:57194357-57194358
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:57184109..57185924-chr6:57191382..57194380,2	K562	blood:
2	chr6:57188094..57190184-chr6:57192296..57194436,2	MCF-7	breast:
3	chr6:57182975..57187891-chr6:57191602..57197743,6	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2758056	chr6:57184541-57562604	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	esv2759432	chr6:57184541-57562604	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1034139	chr6:57192993-57253423	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1022055	chr6:57192993-57353692	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57183000-57194400	Weak transcription	Brain Substantia Nigra	brain
2	chr6:57183000-57194600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:57183000-57199400	Weak transcription	HSMMtube	muscle
4	chr6:57183200-57194400	Weak transcription	Psoas Muscle	Psoas
5	chr6:57183200-57199200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:57184000-57194600	Strong transcription	Primary B cells from cord blood	blood
7	chr6:57184000-57195800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:57184200-57194400	Weak transcription	Fetal Heart	heart
9	chr6:57184200-57201200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr6:57184600-57194400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:57184600-57196000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr6:57184600-57196200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:57184600-57199200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:57184800-57194400	Strong transcription	HepG2	liver
15	chr6:57184800-57194800	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr6:57184800-57199600	Strong transcription	HSMM	muscle
17	chr6:57185000-57195000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr6:57185200-57194400	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr6:57185200-57195800	Strong transcription	Osteobl	bone
20	chr6:57187400-57196600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr6:57188800-57194800	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr6:57189400-57195200	Strong transcription	Hela-S3	cervix
23	chr6:57189800-57194600	Strong transcription	Fetal Intestine Large	intestine
24	chr6:57190000-57195000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:57190000-57195000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr6:57190000-57199800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:57190000-57200000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:57190200-57194600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:57190200-57194600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:57190200-57194800	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr6:57190200-57194800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr6:57190200-57195000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:57190600-57195000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:57190800-57194400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr6:57191200-57194400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr6:57191800-57199800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:57192000-57194400	Strong transcription	Fetal Brain Male	brain
38	chr6:57192000-57195200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
39	chr6:57192000-57199600	ZNF genes & repeats	GM12878-XiMat	blood
40	chr6:57192000-57200000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:57192200-57194600	ZNF genes & repeats	Brain Germinal Matrix	brain
42	chr6:57192200-57194800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
43	chr6:57192200-57195600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
44	chr6:57192200-57199800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr6:57192200-57199800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
46	chr6:57192200-57199800	ZNF genes & repeats	Dnd41	blood
47	chr6:57192400-57197600	ZNF genes & repeats	NHDF-Ad	bronchial
48	chr6:57192400-57197600	Weak transcription	NHEK	skin
49	chr6:57192600-57194600	Strong transcription	Ovary	ovary
50	chr6:57192600-57195800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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