Variant report

Variant	rs1065267
Chromosome Location	chr7:128119514-128119515
allele	A/G
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	POLR2A	chr7:128119189-128119520	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:128119451-128119681	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128116465..128119803-chr7:128169321..128173196,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HILPDA-1	chr7:128119212-128119567	ENSG00000273184.1

Variant related genes	Relation type
METTL2B	TF binding region
ENSG00000273270	Chromatin interaction
ENSG00000242588	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10229394	0.89[CEU][hapmap]
rs11980741	0.89[CEU][hapmap]
rs1560214	0.89[CEU][hapmap]
rs17537088	0.94[CEU][hapmap]
rs2288548	0.89[CEU][hapmap]
rs2288549	0.88[CEU][hapmap]
rs2562730	0.84[CEU][hapmap]
rs2562737	0.84[CEU][hapmap]
rs2732394	0.83[CEU][hapmap]
rs4728108	0.89[CEU][hapmap]
rs4731448	0.89[CEU][hapmap]
rs4731453	0.89[CEU][hapmap]
rs4731454	0.89[CEU][hapmap]

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	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv966883	chr7:128107081-128142581	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr7:128117200-128120600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:128117400-128119800	Weak transcription	Lung	lung
3	chr7:128117400-128121200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:128117400-128136000	Weak transcription	Aorta	Aorta
5	chr7:128117600-128121000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:128117600-128128400	Weak transcription	Left Ventricle	heart
7	chr7:128117600-128134000	Weak transcription	Ovary	ovary
8	chr7:128117600-128135800	Weak transcription	Esophagus	oesophagus
9	chr7:128117800-128119800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:128117800-128120400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:128117800-128121000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:128117800-128121000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:128117800-128121000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:128117800-128121200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:128117800-128121200	Weak transcription	Primary B cells from cord blood	blood
16	chr7:128117800-128121400	Weak transcription	Spleen	Spleen
17	chr7:128117800-128123200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:128117800-128128400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr7:128117800-128133600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr7:128117800-128133800	Weak transcription	Thymus	Thymus
21	chr7:128117800-128134600	Weak transcription	Gastric	stomach
22	chr7:128117800-128135800	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:128117800-128136200	Weak transcription	Stomach Mucosa	stomach
24	chr7:128117800-128137200	Weak transcription	Brain Angular Gyrus	brain
25	chr7:128117800-128137200	Weak transcription	Brain Substantia Nigra	brain
26	chr7:128117800-128140000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:128117800-128140800	Weak transcription	Psoas Muscle	Psoas
28	chr7:128117800-128141200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:128117800-128142800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:128117800-128162800	Weak transcription	Pancreas	Pancrea
31	chr7:128117800-128163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:128118000-128119600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:128118000-128119600	Weak transcription	Brain Anterior Caudate	brain
34	chr7:128118000-128119800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr7:128118000-128120000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:128118000-128120000	Weak transcription	Fetal Intestine Large	intestine
37	chr7:128118000-128120200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr7:128118000-128120800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:128118000-128120800	Weak transcription	Fetal Stomach	stomach
40	chr7:128118000-128121000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr7:128118000-128121000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr7:128118000-128121000	Weak transcription	Brain Hippocampus Middle	brain
43	chr7:128118000-128121000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:128118000-128121200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:128118000-128121200	Weak transcription	HSMMtube	muscle
46	chr7:128118000-128126400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:128118000-128128400	Weak transcription	Brain Germinal Matrix	brain
48	chr7:128118000-128128400	Weak transcription	Fetal Heart	heart
49	chr7:128118000-128133800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr7:128118000-128135600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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