Variant report

Variant	rs12307
Chromosome Location	chr6:114182108-114182109
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:113962572..113972353-chr6:114176344..114182135,15	MCF-7	breast:
2	chr6:113732055..113735601-chr6:114178607..114183451,4	MCF-7	breast:
3	chr6:114180592..114182407-chr6:114183261..114185207,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARCKS-7	chr6:114181691-114182980	NONHSAT114573

Variant related genes	Relation type
ENSG00000230943	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs71566754	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv3444623	chr6:114177809-114182607	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	n/a
5	nsv482098	chr6:114178527-114184652	Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	n/a
6	esv3338875	chr6:114179784-114182632	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	n/a
7	esv3337132	chr6:114180309-114182607	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114175400-114182200	Active TSS	A549	lung
2	chr6:114175600-114182200	Active TSS	Brain Substantia Nigra	brain
3	chr6:114175600-114183000	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr6:114175600-114183600	Active TSS	Right Atrium	heart
5	chr6:114175600-114184000	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr6:114175800-114182200	Active TSS	Brain Cingulate Gyrus	brain
7	chr6:114175800-114182200	Active TSS	Ovary	ovary
8	chr6:114175800-114182600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:114175800-114182800	Active TSS	Psoas Muscle	Psoas
10	chr6:114176000-114182400	Active TSS	Fetal Intestine Large	intestine
11	chr6:114176000-114183200	Active TSS	Colon Smooth Muscle	Colon
12	chr6:114176200-114182200	Active TSS	Fetal Muscle Trunk	muscle
13	chr6:114177000-114182200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:114177400-114182200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:114177600-114182200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:114177600-114183000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:114177800-114182400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:114177800-114182400	Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr6:114178000-114182200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr6:114178000-114182200	Active TSS	HSMMtube	muscle
21	chr6:114178000-114182400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:114178000-114183000	Active TSS	Fetal Muscle Leg	muscle
23	chr6:114179400-114184200	Active TSS	Fetal Brain Female	brain
24	chr6:114179800-114182400	Active TSS	Rectal Smooth Muscle	rectum
25	chr6:114180000-114182400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:114180000-114182400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:114180200-114182600	Active TSS	Stomach Smooth Muscle	stomach
28	chr6:114180400-114182800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:114180600-114183600	Active TSS	Brain Germinal Matrix	brain
30	chr6:114180800-114182600	Active TSS	HMEC	breast
31	chr6:114180800-114182800	Active TSS	Duodenum Mucosa	Duodenum
32	chr6:114180800-114182800	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr6:114181000-114182400	Weak transcription	Spleen	Spleen
34	chr6:114181000-114182800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:114181000-114184000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:114181000-114184600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:114181000-114200200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:114181200-114183000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
39	chr6:114181200-114184000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
40	chr6:114181200-114193200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr6:114181400-114182200	Active TSS	Thymus	Thymus
42	chr6:114181400-114182200	Transcr. at gene 5' and 3'	NHLF	lung
43	chr6:114181400-114183800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
44	chr6:114181600-114182200	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:114181600-114182200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr6:114181600-114182600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
47	chr6:114181600-114182600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:114181600-114184000	Transcr. at gene 5' and 3'	NH-A	brain
49	chr6:114181600-114184200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr6:114181800-114182200	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell

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