Variant report

Variant	rs6465906
Chromosome Location	chr7:102787381-102787382
allele	A/C
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	IRF1	chr7:102787033-102787465	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102780818..102786371-chr7:102786977..102791342,10	K562	blood:
2	chr7:102781326..102784707-chr7:102785831..102787592,3	MCF-7	breast:

Variant related genes	Relation type
RPL19P12	TF binding region
ENSG00000224415	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs62480135	0.82[ASN][1000 genomes]
rs7777319	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv831084	chr7:102778908-102964970	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6465906	RP11-401L13.5	cis	Thyroid	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102747600-102789200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:102768800-102788600	Weak transcription	Right Ventricle	heart
3	chr7:102769200-102787800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr7:102769200-102788200	Weak transcription	Primary B cells from cord blood	blood
5	chr7:102769200-102788400	Weak transcription	Thymus	Thymus
6	chr7:102771000-102788800	Weak transcription	Small Intestine	intestine
7	chr7:102774000-102788600	Weak transcription	HSMMtube	muscle
8	chr7:102774200-102788600	Weak transcription	Psoas Muscle	Psoas
9	chr7:102776200-102788400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:102776600-102787600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:102781600-102787800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr7:102782200-102788600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr7:102782400-102789200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:102782400-102789200	Weak transcription	Gastric	stomach
15	chr7:102782600-102788400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:102782800-102787800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:102782800-102788400	Weak transcription	HSMM	muscle
18	chr7:102782800-102789200	Weak transcription	Spleen	Spleen
19	chr7:102783400-102787600	Weak transcription	A549	lung
20	chr7:102784000-102788600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:102785200-102787400	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr7:102786000-102790200	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr7:102786200-102787800	Enhancers	Fetal Heart	heart
24	chr7:102786200-102790400	Active TSS	Brain Hippocampus Middle	brain
25	chr7:102786200-102790400	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr7:102786200-102790400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:102786400-102790200	Active TSS	Aorta	Aorta
28	chr7:102786400-102790200	Active TSS	Brain Cingulate Gyrus	brain
29	chr7:102786600-102787400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:102786600-102787400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr7:102786600-102787400	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr7:102786600-102787400	Enhancers	Fetal Muscle Leg	muscle
33	chr7:102786600-102787400	Enhancers	Left Ventricle	heart
34	chr7:102786600-102787400	Enhancers	Pancreas	Pancrea
35	chr7:102786600-102787600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:102786600-102787600	Active TSS	Rectal Smooth Muscle	rectum
37	chr7:102786600-102787800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr7:102786600-102787800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr7:102786600-102788800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr7:102786600-102789200	Flanking Active TSS	Liver	Liver
41	chr7:102786600-102790200	Active TSS	Stomach Smooth Muscle	stomach
42	chr7:102786800-102787400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr7:102786800-102787400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:102786800-102787400	Flanking Active TSS	K562	blood
45	chr7:102786800-102787600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr7:102786800-102787800	Enhancers	HepG2	liver
47	chr7:102786800-102788000	Flanking Active TSS	Fetal Lung	lung
48	chr7:102786800-102788600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr7:102786800-102788600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:102786800-102790000	Active TSS	Fetal Intestine Small	intestine

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