Variant report

Variant	rs61710406
Chromosome Location	chr6:114289874-114289875
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr6:114289827-114290168	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:114289810-114293244	K562	blood:	n/a	n/a
3	REST	chr6:114289630-114293132	H1-neurons	neurons:	n/a	chr6:114290000-114290007 chr6:114292508-114292528
4	MXI1	chr6:114288995-114293464	SK-N-SH	brain:	n/a	n/a
5	CHD1	chr6:114289753-114293197	IMR90	lung:	n/a	n/a
6	KAP1	chr6:114289731-114290438	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114287867..114290622-chr6:114290692..114293112,2	MCF-7	breast:
2	chr6:114276746..114279489-chr6:114289754..114292765,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228624	TF binding region
HDAC2	TF binding region
ENSG00000196591	Chromatin interaction
ENSG00000228624	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55666773	1.00[AFR][1000 genomes]
rs55796700	1.00[AFR][1000 genomes]
rs61420861	1.00[AFR][1000 genomes]
rs73767014	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv520419	chr6:114285253-114306614	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114253400-114290600	Weak transcription	Aorta	Aorta
2	chr6:114258600-114291000	Weak transcription	Lung	lung
3	chr6:114277400-114290200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:114279600-114290000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr6:114280600-114291000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:114286200-114290800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr6:114287200-114290200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:114287800-114290400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr6:114288000-114290400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:114288000-114290800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:114288000-114293400	Active TSS	GM12878-XiMat	blood
12	chr6:114288400-114290000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr6:114288600-114290000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr6:114288600-114290400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr6:114288600-114290600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr6:114288600-114291000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:114288600-114291000	Enhancers	Colon Smooth Muscle	Colon
18	chr6:114288800-114290000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr6:114288800-114290400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr6:114288800-114290600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr6:114288800-114290600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr6:114288800-114290800	Flanking Active TSS	Dnd41	blood
23	chr6:114289000-114290000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr6:114289000-114290000	Enhancers	Brain Cingulate Gyrus	brain
25	chr6:114289000-114290000	Enhancers	Fetal Heart	heart
26	chr6:114289000-114290200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr6:114289000-114290200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr6:114289000-114290200	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr6:114289000-114290600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr6:114289000-114290800	Enhancers	Brain Angular Gyrus	brain
31	chr6:114289000-114291000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr6:114289200-114290000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr6:114289200-114290000	Enhancers	Ovary	ovary
34	chr6:114289200-114290000	Enhancers	Stomach Smooth Muscle	stomach
35	chr6:114289200-114290000	Enhancers	Osteobl	bone
36	chr6:114289200-114290200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:114289200-114290200	Weak transcription	Primary B cells from cord blood	blood
38	chr6:114289200-114290200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:114289200-114290200	Enhancers	Fetal Intestine Large	intestine
40	chr6:114289200-114290200	Enhancers	Left Ventricle	heart
41	chr6:114289200-114290200	Enhancers	Psoas Muscle	Psoas
42	chr6:114289200-114290200	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr6:114289200-114290400	Enhancers	Primary T cells fromperipheralblood	blood
44	chr6:114289200-114290400	Enhancers	Fetal Muscle Leg	muscle
45	chr6:114289200-114290800	Enhancers	Primary B cells from peripheral blood	blood
46	chr6:114289200-114290800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:114289200-114290800	Enhancers	Liver	Liver
48	chr6:114289200-114291000	Enhancers	Small Intestine	intestine
49	chr6:114289400-114290000	Enhancers	Fetal Stomach	stomach
50	chr6:114289400-114290200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell

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